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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: 1-37984221-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=37984221&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 37984221,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006802.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "NM_006802.4",
"protein_id": "NP_006793.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 501,
"cds_start": 416,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": "ENST00000373019.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006802.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000373019.5",
"protein_id": "ENSP00000362110.4",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 501,
"cds_start": 416,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": "NM_006802.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373019.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000896916.1",
"protein_id": "ENSP00000566975.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 534,
"cds_start": 416,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896916.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Tyr157Cys",
"transcript": "ENST00000963486.1",
"protein_id": "ENSP00000633545.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 519,
"cds_start": 470,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963486.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000963485.1",
"protein_id": "ENSP00000633544.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 509,
"cds_start": 416,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963485.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000896914.1",
"protein_id": "ENSP00000566973.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 500,
"cds_start": 416,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896914.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000931599.1",
"protein_id": "ENSP00000601658.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 500,
"cds_start": 416,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931599.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000896913.1",
"protein_id": "ENSP00000566972.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 499,
"cds_start": 416,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896913.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.368A>G",
"hgvs_p": "p.Tyr123Cys",
"transcript": "ENST00000896915.1",
"protein_id": "ENSP00000566974.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 485,
"cds_start": 368,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896915.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000931598.1",
"protein_id": "ENSP00000601657.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 465,
"cds_start": 416,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931598.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Tyr86Cys",
"transcript": "NM_001320830.2",
"protein_id": "NP_001307759.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 448,
"cds_start": 257,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320830.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Tyr86Cys",
"transcript": "ENST00000931603.1",
"protein_id": "ENSP00000601662.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 447,
"cds_start": 257,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931603.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.209A>G",
"hgvs_p": "p.Tyr70Cys",
"transcript": "ENST00000931601.1",
"protein_id": "ENSP00000601660.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 432,
"cds_start": 209,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931601.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000896912.1",
"protein_id": "ENSP00000566971.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 419,
"cds_start": 416,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896912.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000931604.1",
"protein_id": "ENSP00000601663.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 396,
"cds_start": 416,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931604.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.257A>G",
"hgvs_p": "p.Tyr86Cys",
"transcript": "ENST00000931602.1",
"protein_id": "ENSP00000601661.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 366,
"cds_start": 257,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931602.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys",
"transcript": "ENST00000931605.1",
"protein_id": "ENSP00000601664.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 327,
"cds_start": 416,
"cds_end": null,
"cds_length": 984,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931605.1"
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.304-2410A>G",
"hgvs_p": null,
"transcript": "ENST00000931600.1",
"protein_id": "ENSP00000601659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931600.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "c.304-2410A>G",
"hgvs_p": null,
"transcript": "ENST00000963484.1",
"protein_id": "ENSP00000633543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": null,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963484.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "n.367A>G",
"hgvs_p": null,
"transcript": "ENST00000461869.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 776,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461869.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "n.424A>G",
"hgvs_p": null,
"transcript": "ENST00000462258.1",
"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": 527,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "n.287A>G",
"hgvs_p": null,
"transcript": "ENST00000470585.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 704,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470585.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"hgvs_c": "n.375A>G",
"hgvs_p": null,
"transcript": "ENST00000489537.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 891,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000489537.5"
}
],
"gene_symbol": "SF3A3",
"gene_hgnc_id": 10767,
"dbsnp": "rs756075689",
"frequency_reference_population": 0.000003430979,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000343098,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8908778429031372,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.515,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8137,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.761,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006802.4",
"gene_symbol": "SF3A3",
"hgnc_id": 10767,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Tyr139Cys"
}
],
"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
}