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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: 3-124773892-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124773892&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124773892,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002213.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1714G>A",
"hgvs_p": "p.Gly572Arg",
"transcript": "NM_002213.5",
"protein_id": "NP_002204.2",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 799,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296181.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002213.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1714G>A",
"hgvs_p": "p.Gly572Arg",
"transcript": "ENST00000296181.9",
"protein_id": "ENSP00000296181.4",
"transcript_support_level": 1,
"aa_start": 572,
"aa_end": null,
"aa_length": 799,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002213.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296181.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Gly646Arg",
"transcript": "ENST00000905025.1",
"protein_id": "ENSP00000575084.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 873,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905025.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1828G>A",
"hgvs_p": "p.Gly610Arg",
"transcript": "ENST00000965613.1",
"protein_id": "ENSP00000635672.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 837,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965613.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1759G>A",
"hgvs_p": "p.Gly587Arg",
"transcript": "ENST00000965616.1",
"protein_id": "ENSP00000635675.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 814,
"cds_start": 1759,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965616.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1711G>A",
"hgvs_p": "p.Gly571Arg",
"transcript": "ENST00000935896.1",
"protein_id": "ENSP00000605955.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 798,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935896.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1714G>A",
"hgvs_p": "p.Gly572Arg",
"transcript": "ENST00000935903.1",
"protein_id": "ENSP00000605962.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 797,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935903.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Gly570Arg",
"transcript": "ENST00000965615.1",
"protein_id": "ENSP00000635674.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 797,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965615.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Gly564Arg",
"transcript": "ENST00000935905.1",
"protein_id": "ENSP00000605964.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 791,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935905.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1618G>A",
"hgvs_p": "p.Gly540Arg",
"transcript": "ENST00000935898.1",
"protein_id": "ENSP00000605957.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 767,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935898.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1714G>A",
"hgvs_p": "p.Gly572Arg",
"transcript": "ENST00000965612.1",
"protein_id": "ENSP00000635671.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 759,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965612.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Gly518Arg",
"transcript": "ENST00000935909.1",
"protein_id": "ENSP00000605968.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 745,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935909.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1546G>A",
"hgvs_p": "p.Gly516Arg",
"transcript": "ENST00000935906.1",
"protein_id": "ENSP00000605965.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 743,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935906.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1528G>A",
"hgvs_p": "p.Gly510Arg",
"transcript": "ENST00000905026.1",
"protein_id": "ENSP00000575085.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 737,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905026.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Gly497Arg",
"transcript": "ENST00000935895.1",
"protein_id": "ENSP00000605954.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 724,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935895.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1483G>A",
"hgvs_p": "p.Gly495Arg",
"transcript": "ENST00000935908.1",
"protein_id": "ENSP00000605967.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 722,
"cds_start": 1483,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935908.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1480G>A",
"hgvs_p": "p.Gly494Arg",
"transcript": "ENST00000935899.1",
"protein_id": "ENSP00000605958.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 721,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935899.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Gly486Arg",
"transcript": "ENST00000965614.1",
"protein_id": "ENSP00000635673.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 713,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965614.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Gly475Arg",
"transcript": "ENST00000935902.1",
"protein_id": "ENSP00000605961.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 702,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935902.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Gly465Arg",
"transcript": "ENST00000935900.1",
"protein_id": "ENSP00000605959.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 692,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935900.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Gly464Arg",
"transcript": "NM_001354764.2",
"protein_id": "NP_001341693.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 691,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354764.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Gly464Arg",
"transcript": "NM_001354765.1",
"protein_id": "NP_001341694.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 691,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
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{
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}