← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-64767053-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64767053&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64767053,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001378957.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1429A>T",
"hgvs_p": "p.Met477Leu",
"transcript": "NM_004630.4",
"protein_id": "NP_004621.2",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 639,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377390.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004630.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1429A>T",
"hgvs_p": "p.Met477Leu",
"transcript": "ENST00000377390.8",
"protein_id": "ENSP00000366607.3",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 639,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004630.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377390.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1804A>T",
"hgvs_p": "p.Met602Leu",
"transcript": "ENST00000377387.5",
"protein_id": "ENSP00000366604.1",
"transcript_support_level": 1,
"aa_start": 602,
"aa_end": null,
"aa_length": 673,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377387.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1429A>T",
"hgvs_p": "p.Met477Leu",
"transcript": "ENST00000334944.9",
"protein_id": "ENSP00000334414.5",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 638,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334944.9"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1433A>T",
"hgvs_p": "p.His478Leu",
"transcript": "ENST00000377394.7",
"protein_id": "ENSP00000366611.3",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 571,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377394.7"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1429A>T",
"hgvs_p": "p.Met477Leu",
"transcript": "ENST00000227503.13",
"protein_id": "ENSP00000227503.9",
"transcript_support_level": 1,
"aa_start": 477,
"aa_end": null,
"aa_length": 548,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000227503.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "n.*1024A>T",
"hgvs_p": null,
"transcript": "ENST00000448404.5",
"protein_id": "ENSP00000407962.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448404.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "n.*1024A>T",
"hgvs_p": null,
"transcript": "ENST00000448404.5",
"protein_id": "ENSP00000407962.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448404.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1804A>T",
"hgvs_p": "p.Met602Leu",
"transcript": "NM_001378957.1",
"protein_id": "NP_001365886.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 764,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378957.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1804A>T",
"hgvs_p": "p.Met602Leu",
"transcript": "ENST00000681407.1",
"protein_id": "ENSP00000505779.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 764,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681407.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1804A>T",
"hgvs_p": "p.Met602Leu",
"transcript": "NM_001378956.1",
"protein_id": "NP_001365885.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 763,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378956.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1804A>T",
"hgvs_p": "p.Met602Leu",
"transcript": "ENST00000706684.1",
"protein_id": "ENSP00000516498.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 763,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706684.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1808A>T",
"hgvs_p": "p.His603Leu",
"transcript": "NM_001440580.1",
"protein_id": "NP_001427509.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 696,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440580.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1799A>T",
"hgvs_p": "p.His600Leu",
"transcript": "NM_001440581.1",
"protein_id": "NP_001427510.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 693,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440581.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1804A>T",
"hgvs_p": "p.Met602Leu",
"transcript": "NM_001178030.2",
"protein_id": "NP_001171501.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 673,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178030.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1429A>T",
"hgvs_p": "p.Met477Leu",
"transcript": "NM_201995.3",
"protein_id": "NP_973724.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 638,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201995.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1408A>T",
"hgvs_p": "p.Met470Leu",
"transcript": "ENST00000931519.1",
"protein_id": "ENSP00000601578.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 632,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931519.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1351A>T",
"hgvs_p": "p.Met451Leu",
"transcript": "NM_001178031.3",
"protein_id": "NP_001171502.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 613,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178031.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1351A>T",
"hgvs_p": "p.Met451Leu",
"transcript": "ENST00000433274.6",
"protein_id": "ENSP00000396793.2",
"transcript_support_level": 2,
"aa_start": 451,
"aa_end": null,
"aa_length": 613,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433274.6"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1424A>T",
"hgvs_p": "p.His475Leu",
"transcript": "NM_001346363.2",
"protein_id": "NP_001333292.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 608,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346363.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1433A>T",
"hgvs_p": "p.His478Leu",
"transcript": "NM_001440582.1",
"protein_id": "NP_001427511.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 608,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440582.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1424A>T",
"hgvs_p": "p.His475Leu",
"transcript": "ENST00000486867.2",
"protein_id": "ENSP00000419062.2",
"transcript_support_level": 3,
"aa_start": 475,
"aa_end": null,
"aa_length": 608,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486867.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1424A>T",
"hgvs_p": "p.His475Leu",
"transcript": "NM_001440583.1",
"protein_id": "NP_001427512.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 605,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440583.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1355A>T",
"hgvs_p": "p.His452Leu",
"transcript": "NM_001440584.1",
"protein_id": "NP_001427513.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 582,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440584.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1346A>T",
"hgvs_p": "p.His449Leu",
"transcript": "NM_001440585.1",
"protein_id": "NP_001427514.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 579,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440585.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1433A>T",
"hgvs_p": "p.His478Leu",
"transcript": "NM_201997.3",
"protein_id": "NP_973726.2",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 571,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201997.3"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1424A>T",
"hgvs_p": "p.His475Leu",
"transcript": "NM_001346364.2",
"protein_id": "NP_001333293.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 568,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346364.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1429A>T",
"hgvs_p": "p.Met477Leu",
"transcript": "NM_201998.3",
"protein_id": "NP_973727.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 548,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201998.3"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1088A>T",
"hgvs_p": "p.His363Leu",
"transcript": "NM_001346410.2",
"protein_id": "NP_001333339.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 456,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346410.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1084A>T",
"hgvs_p": "p.Met362Leu",
"transcript": "NM_001346409.2",
"protein_id": "NP_001333338.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 433,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346409.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.385A>T",
"hgvs_p": "p.Met129Leu",
"transcript": "ENST00000443908.5",
"protein_id": "ENSP00000391198.1",
"transcript_support_level": 3,
"aa_start": 129,
"aa_end": null,
"aa_length": 200,
"cds_start": 385,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443908.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.137A>T",
"hgvs_p": "p.His46Leu",
"transcript": "ENST00000413725.5",
"protein_id": "ENSP00000395927.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 179,
"cds_start": 137,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413725.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1808A>T",
"hgvs_p": "p.His603Leu",
"transcript": "XM_011545247.2",
"protein_id": "XP_011543549.2",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 733,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545247.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1799A>T",
"hgvs_p": "p.His600Leu",
"transcript": "XM_047427549.1",
"protein_id": "XP_047283505.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 730,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1402+139A>T",
"hgvs_p": null,
"transcript": "ENST00000890453.1",
"protein_id": "ENSP00000560512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": null,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.1403-81A>T",
"hgvs_p": null,
"transcript": "ENST00000706685.1",
"protein_id": "ENSP00000516499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706685.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "n.163A>T",
"hgvs_p": null,
"transcript": "ENST00000477596.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477596.1"
}
],
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"dbsnp": "rs755044104",
"frequency_reference_population": 0.000005106933,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000494867,
"gnomad_genomes_af": 0.00000657999,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0716184675693512,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.0944,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.079,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001378957.1",
"gene_symbol": "SF1",
"hgnc_id": 12950,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1804A>T",
"hgvs_p": "p.Met602Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}