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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: 17-28758527-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28758527&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28758527,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001288631.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "NM_001077498.3",
"protein_id": "NP_001070966.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000581407.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077498.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000581407.6",
"protein_id": "ENSP00000462419.1",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001077498.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581407.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.*1233G>T",
"hgvs_p": null,
"transcript": "ENST00000582266.6",
"protein_id": "ENSP00000462534.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 28,
"cds_start": null,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582266.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1438G>T",
"hgvs_p": "p.Gly480Trp",
"transcript": "NM_001288631.2",
"protein_id": "NP_001275560.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 564,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288631.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "NM_001288632.2",
"protein_id": "NP_001275561.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288632.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "NM_001288633.2",
"protein_id": "NP_001275562.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288633.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "NM_001288634.2",
"protein_id": "NP_001275563.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288634.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "NM_001288635.2",
"protein_id": "NP_001275564.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288635.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "NM_018182.4",
"protein_id": "NP_060652.2",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018182.4"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000452648.8",
"protein_id": "ENSP00000413645.3",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452648.8"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000577376.6",
"protein_id": "ENSP00000464355.2",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577376.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000577513.6",
"protein_id": "ENSP00000463642.2",
"transcript_support_level": 3,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577513.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000581229.6",
"protein_id": "ENSP00000464299.2",
"transcript_support_level": 4,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581229.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000583307.6",
"protein_id": "ENSP00000463296.2",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583307.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000874874.1",
"protein_id": "ENSP00000544933.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874874.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000874875.1",
"protein_id": "ENSP00000544934.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874875.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000874876.1",
"protein_id": "ENSP00000544935.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874876.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000874877.1",
"protein_id": "ENSP00000544936.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874877.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000874878.1",
"protein_id": "ENSP00000544937.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874878.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000874879.1",
"protein_id": "ENSP00000544938.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874879.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000874880.1",
"protein_id": "ENSP00000544939.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874880.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Gly478Trp",
"transcript": "ENST00000919307.1",
"protein_id": "ENSP00000589366.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 562,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}