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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: 13-77556598-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77556598&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 77556598,
"ref": "A",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_144777.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "NM_144777.3",
"protein_id": "NP_659001.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 688,
"cds_start": 46,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349847.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144777.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000349847.4",
"protein_id": "ENSP00000302579.5",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 688,
"cds_start": 46,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144777.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349847.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000377246.7",
"protein_id": "ENSP00000366454.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 668,
"cds_start": 46,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377246.7"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856158.1",
"protein_id": "ENSP00000526217.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 687,
"cds_start": 46,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856158.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856162.1",
"protein_id": "ENSP00000526221.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 687,
"cds_start": 46,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856162.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000965443.1",
"protein_id": "ENSP00000635502.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 686,
"cds_start": 46,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965443.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000965440.1",
"protein_id": "ENSP00000635499.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 681,
"cds_start": 46,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965440.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856139.1",
"protein_id": "ENSP00000526198.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 675,
"cds_start": 46,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856139.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "NM_003843.4",
"protein_id": "NP_003834.3",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 668,
"cds_start": 46,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003843.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856144.1",
"protein_id": "ENSP00000526203.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 668,
"cds_start": 46,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856144.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856183.1",
"protein_id": "ENSP00000526242.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 667,
"cds_start": 46,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856183.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856156.1",
"protein_id": "ENSP00000526215.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 666,
"cds_start": 46,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856156.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856170.1",
"protein_id": "ENSP00000526229.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 665,
"cds_start": 46,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856170.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000965414.1",
"protein_id": "ENSP00000635473.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 664,
"cds_start": 46,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965414.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000965424.1",
"protein_id": "ENSP00000635483.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 664,
"cds_start": 46,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965424.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000965431.1",
"protein_id": "ENSP00000635490.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 664,
"cds_start": 46,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965431.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000965441.1",
"protein_id": "ENSP00000635500.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 664,
"cds_start": 46,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965441.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856188.1",
"protein_id": "ENSP00000526247.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 652,
"cds_start": 46,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856188.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856137.1",
"protein_id": "ENSP00000526196.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 649,
"cds_start": 46,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856137.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856173.1",
"protein_id": "ENSP00000526232.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 648,
"cds_start": 46,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856173.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu",
"transcript": "ENST00000856160.1",
"protein_id": "ENSP00000526219.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 647,
"cds_start": 46,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856160.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"hgvs_c": "n.46A>T",
"hgvs_p": null,
"transcript": "ENST00000471491.5",
"protein_id": "ENSP00000432840.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000471491.5"
}
],
"gene_symbol": "SCEL",
"gene_hgnc_id": 10573,
"dbsnp": "rs764638067",
"frequency_reference_population": 0.000026663061,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.0000280718,
"gnomad_genomes_af": 0.0000131427,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.018200188875198364,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.1507,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.391,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_144777.3",
"gene_symbol": "SCEL",
"hgnc_id": 10573,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.46A>T",
"hgvs_p": "p.Met16Leu"
}
],
"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
}