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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: 4-185615094-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=185615094&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 185615094,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001395207.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3305A>T",
"hgvs_p": "p.Glu1102Val",
"transcript": "NM_001395207.1",
"protein_id": "NP_001382136.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3305,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695409.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395207.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3305A>T",
"hgvs_p": "p.Glu1102Val",
"transcript": "ENST00000695409.1",
"protein_id": "ENSP00000511888.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3305,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395207.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695409.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.2705A>T",
"hgvs_p": "p.Glu902Val",
"transcript": "ENST00000284776.11",
"protein_id": "ENSP00000284776.7",
"transcript_support_level": 1,
"aa_start": 902,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2705,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284776.11"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.1877A>T",
"hgvs_p": "p.Glu626Val",
"transcript": "ENST00000437304.6",
"protein_id": "ENSP00000396008.2",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 824,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437304.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.1598A>T",
"hgvs_p": "p.Glu533Val",
"transcript": "ENST00000319471.13",
"protein_id": "ENSP00000322182.9",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 731,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319471.13"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.1403A>T",
"hgvs_p": "p.Glu468Val",
"transcript": "ENST00000393528.7",
"protein_id": "ENSP00000377162.3",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 666,
"cds_start": 1403,
"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": "ENST00000393528.7"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.1337A>T",
"hgvs_p": "p.Glu446Val",
"transcript": "ENST00000449407.6",
"protein_id": "ENSP00000397262.2",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 644,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449407.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.1478A>T",
"hgvs_p": "p.Glu493Val",
"transcript": "ENST00000319454.10",
"protein_id": "ENSP00000321983.6",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 635,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319454.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "n.*1708A>T",
"hgvs_p": null,
"transcript": "ENST00000487184.2",
"protein_id": "ENSP00000511890.1",
"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": "ENST00000487184.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "n.*1708A>T",
"hgvs_p": null,
"transcript": "ENST00000487184.2",
"protein_id": "ENSP00000511890.1",
"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": "ENST00000487184.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.4121A>T",
"hgvs_p": "p.Glu1374Val",
"transcript": "ENST00000421420.6",
"protein_id": "ENSP00000393258.2",
"transcript_support_level": 4,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421420.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3263A>T",
"hgvs_p": "p.Glu1088Val",
"transcript": "NM_001394245.1",
"protein_id": "NP_001381174.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394245.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3206A>T",
"hgvs_p": "p.Glu1069Val",
"transcript": "NM_001394246.1",
"protein_id": "NP_001381175.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394246.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3206A>T",
"hgvs_p": "p.Glu1069Val",
"transcript": "NM_001394247.1",
"protein_id": "NP_001381176.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3206,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394247.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3137A>T",
"hgvs_p": "p.Glu1046Val",
"transcript": "NM_001394248.1",
"protein_id": "NP_001381177.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3137,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394248.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3137A>T",
"hgvs_p": "p.Glu1046Val",
"transcript": "NM_001394249.1",
"protein_id": "NP_001381178.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3137,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394249.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3122A>T",
"hgvs_p": "p.Glu1041Val",
"transcript": "NM_001394250.1",
"protein_id": "NP_001381179.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3122,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394250.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3005A>T",
"hgvs_p": "p.Glu1002Val",
"transcript": "NM_001270771.3",
"protein_id": "NP_001257700.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270771.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3005A>T",
"hgvs_p": "p.Glu1002Val",
"transcript": "NM_001394251.1",
"protein_id": "NP_001381180.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394251.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3005A>T",
"hgvs_p": "p.Glu1002Val",
"transcript": "NM_001394252.1",
"protein_id": "NP_001381181.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394252.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3005A>T",
"hgvs_p": "p.Glu1002Val",
"transcript": "NM_001394253.1",
"protein_id": "NP_001381182.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394253.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.3005A>T",
"hgvs_p": "p.Glu1002Val",
"transcript": "NM_001394254.1",
"protein_id": "NP_001381183.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}