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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: 7-20379171-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=20379171&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 20379171,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002214.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala",
"transcript": "NM_002214.3",
"protein_id": "NP_002205.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 769,
"cds_start": 509,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222573.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002214.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala",
"transcript": "ENST00000222573.5",
"protein_id": "ENSP00000222573.3",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 769,
"cds_start": 509,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002214.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222573.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "n.2663G>C",
"hgvs_p": null,
"transcript": "ENST00000477859.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000477859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "n.1214G>C",
"hgvs_p": null,
"transcript": "ENST00000478974.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000478974.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala",
"transcript": "ENST00000897604.1",
"protein_id": "ENSP00000567663.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 769,
"cds_start": 509,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897604.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala",
"transcript": "ENST00000897608.1",
"protein_id": "ENSP00000567667.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 768,
"cds_start": 509,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897608.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala",
"transcript": "ENST00000897607.1",
"protein_id": "ENSP00000567666.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 724,
"cds_start": 509,
"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": "ENST00000897607.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala",
"transcript": "ENST00000897605.1",
"protein_id": "ENSP00000567664.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 716,
"cds_start": 509,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897605.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala",
"transcript": "ENST00000897606.1",
"protein_id": "ENSP00000567665.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 716,
"cds_start": 509,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897606.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala",
"transcript": "ENST00000897609.1",
"protein_id": "ENSP00000567668.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 635,
"cds_start": 509,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897609.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.104G>C",
"hgvs_p": "p.Gly35Ala",
"transcript": "ENST00000537992.5",
"protein_id": "ENSP00000441561.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 634,
"cds_start": 104,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537992.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala",
"transcript": "XM_017012178.2",
"protein_id": "XP_016867667.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 769,
"cds_start": 509,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012178.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala",
"transcript": "XM_017012179.2",
"protein_id": "XP_016867668.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 769,
"cds_start": 509,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012179.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.485G>C",
"hgvs_p": "p.Gly162Ala",
"transcript": "XM_011515393.3",
"protein_id": "XP_011513695.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 761,
"cds_start": 485,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515393.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.476G>C",
"hgvs_p": "p.Gly159Ala",
"transcript": "XM_011515394.3",
"protein_id": "XP_011513696.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 758,
"cds_start": 476,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515394.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.104G>C",
"hgvs_p": "p.Gly35Ala",
"transcript": "XM_017012180.2",
"protein_id": "XP_016867669.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 634,
"cds_start": 104,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012180.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.104G>C",
"hgvs_p": "p.Gly35Ala",
"transcript": "XM_017012182.2",
"protein_id": "XP_016867671.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 634,
"cds_start": 104,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012182.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.104G>C",
"hgvs_p": "p.Gly35Ala",
"transcript": "XM_017012183.2",
"protein_id": "XP_016867672.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 634,
"cds_start": 104,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012183.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.104G>C",
"hgvs_p": "p.Gly35Ala",
"transcript": "XM_047420341.1",
"protein_id": "XP_047276297.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 634,
"cds_start": 104,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420341.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.104G>C",
"hgvs_p": "p.Gly35Ala",
"transcript": "XM_047420342.1",
"protein_id": "XP_047276298.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 634,
"cds_start": 104,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420342.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.104G>C",
"hgvs_p": "p.Gly35Ala",
"transcript": "XM_047420343.1",
"protein_id": "XP_047276299.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 634,
"cds_start": 104,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420343.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.104G>C",
"hgvs_p": "p.Gly35Ala",
"transcript": "XM_047420344.1",
"protein_id": "XP_047276300.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 634,
"cds_start": 104,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420344.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"hgvs_c": "c.104G>C",
"hgvs_p": "p.Gly35Ala",
"transcript": "XM_047420345.1",
"protein_id": "XP_047276301.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 634,
"cds_start": 104,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420345.1"
}
],
"gene_symbol": "ITGB8",
"gene_hgnc_id": 6163,
"dbsnp": "rs142263323",
"frequency_reference_population": 0.00016876799,
"hom_count_reference_population": 0,
"allele_count_reference_population": 272,
"gnomad_exomes_af": 0.000121267,
"gnomad_genomes_af": 0.000624606,
"gnomad_exomes_ac": 177,
"gnomad_genomes_ac": 95,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15833479166030884,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.866,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4544,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.883,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 6,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002214.3",
"gene_symbol": "ITGB8",
"hgnc_id": 6163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.509G>C",
"hgvs_p": "p.Gly170Ala"
}
],
"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
}