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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: 17-75750992-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75750992&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75750992,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000213.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "NM_000213.5",
"protein_id": "NP_000204.3",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1822,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000200181.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000213.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000200181.8",
"protein_id": "ENSP00000200181.3",
"transcript_support_level": 1,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1822,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000213.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000200181.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000449880.7",
"protein_id": "ENSP00000400217.2",
"transcript_support_level": 1,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449880.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000450894.7",
"protein_id": "ENSP00000405536.3",
"transcript_support_level": 1,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1752,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450894.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000579662.5",
"protein_id": "ENSP00000463651.1",
"transcript_support_level": 1,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1752,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579662.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000864029.1",
"protein_id": "ENSP00000534088.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1875,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864029.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000864030.1",
"protein_id": "ENSP00000534089.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1875,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864030.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3839G>T",
"hgvs_p": "p.Arg1280Leu",
"transcript": "ENST00000948792.1",
"protein_id": "ENSP00000618851.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1860,
"cds_start": 3839,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948792.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3761G>T",
"hgvs_p": "p.Arg1254Leu",
"transcript": "ENST00000864031.1",
"protein_id": "ENSP00000534090.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1834,
"cds_start": 3761,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864031.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3761G>T",
"hgvs_p": "p.Arg1254Leu",
"transcript": "ENST00000948787.1",
"protein_id": "ENSP00000618846.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1834,
"cds_start": 3761,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948787.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000864028.1",
"protein_id": "ENSP00000534087.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1822,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864028.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000864039.1",
"protein_id": "ENSP00000534098.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1822,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864039.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3671G>T",
"hgvs_p": "p.Arg1224Leu",
"transcript": "ENST00000948791.1",
"protein_id": "ENSP00000618850.1",
"transcript_support_level": null,
"aa_start": 1224,
"aa_end": null,
"aa_length": 1821,
"cds_start": 3671,
"cds_end": null,
"cds_length": 5466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948791.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3701G>T",
"hgvs_p": "p.Arg1234Leu",
"transcript": "ENST00000948790.1",
"protein_id": "ENSP00000618849.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1814,
"cds_start": 3701,
"cds_end": null,
"cds_length": 5445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948790.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3842G>T",
"hgvs_p": "p.Arg1281Leu",
"transcript": "ENST00000864040.1",
"protein_id": "ENSP00000534099.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1808,
"cds_start": 3842,
"cds_end": null,
"cds_length": 5427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864040.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "NM_001005619.2",
"protein_id": "NP_001005619.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005619.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000864027.1",
"protein_id": "ENSP00000534086.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864027.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000864041.1",
"protein_id": "ENSP00000534100.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864041.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000948785.1",
"protein_id": "ENSP00000618844.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948785.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000948793.1",
"protein_id": "ENSP00000618852.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948793.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu",
"transcript": "ENST00000864034.1",
"protein_id": "ENSP00000534093.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1798,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864034.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3761G>T",
"hgvs_p": "p.Arg1254Leu",
"transcript": "ENST00000864037.1",
"protein_id": "ENSP00000534096.1",
"transcript_support_level": null,
"aa_start": 1254,
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{
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{
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"gene_symbol": "ITGB4",
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],
"gene_symbol": "ITGB4",
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"dbsnp": "rs121912468",
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": 0.00000657004,
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"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8815646171569824,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.527,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9196,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"mitotip_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000213.5",
"gene_symbol": "ITGB4",
"hgnc_id": 6158,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.3674G>T",
"hgvs_p": "p.Arg1225Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}