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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: 4-112541153-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=112541153&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 112541153,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018392.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5714G>A",
"hgvs_p": "p.Arg1905Gln",
"transcript": "NM_018392.5",
"protein_id": "NP_060862.3",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5714,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000505019.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018392.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5714G>A",
"hgvs_p": "p.Arg1905Gln",
"transcript": "ENST00000505019.6",
"protein_id": "ENSP00000424737.1",
"transcript_support_level": 5,
"aa_start": 1905,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5714,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018392.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505019.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5714G>A",
"hgvs_p": "p.Arg1905Gln",
"transcript": "ENST00000445203.6",
"protein_id": "ENSP00000390505.3",
"transcript_support_level": 5,
"aa_start": 1905,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5714,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445203.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5540G>A",
"hgvs_p": "p.Arg1847Gln",
"transcript": "NM_001350397.2",
"protein_id": "NP_001337326.1",
"transcript_support_level": null,
"aa_start": 1847,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5540,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350397.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5540G>A",
"hgvs_p": "p.Arg1847Gln",
"transcript": "ENST00000925931.1",
"protein_id": "ENSP00000595990.1",
"transcript_support_level": null,
"aa_start": 1847,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5540,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925931.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5489G>A",
"hgvs_p": "p.Arg1830Gln",
"transcript": "ENST00000925932.1",
"protein_id": "ENSP00000595991.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 2029,
"cds_start": 5489,
"cds_end": null,
"cds_length": 6090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925932.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5480G>A",
"hgvs_p": "p.Arg1827Gln",
"transcript": "ENST00000925930.1",
"protein_id": "ENSP00000595989.1",
"transcript_support_level": null,
"aa_start": 1827,
"aa_end": null,
"aa_length": 2026,
"cds_start": 5480,
"cds_end": null,
"cds_length": 6081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925930.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5480G>A",
"hgvs_p": "p.Arg1827Gln",
"transcript": "ENST00000925934.1",
"protein_id": "ENSP00000595993.1",
"transcript_support_level": null,
"aa_start": 1827,
"aa_end": null,
"aa_length": 2026,
"cds_start": 5480,
"cds_end": null,
"cds_length": 6081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925934.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5456G>A",
"hgvs_p": "p.Arg1819Gln",
"transcript": "ENST00000925933.1",
"protein_id": "ENSP00000595992.1",
"transcript_support_level": null,
"aa_start": 1819,
"aa_end": null,
"aa_length": 2018,
"cds_start": 5456,
"cds_end": null,
"cds_length": 6057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925933.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5714G>A",
"hgvs_p": "p.Arg1905Gln",
"transcript": "XM_005263115.5",
"protein_id": "XP_005263172.1",
"transcript_support_level": null,
"aa_start": 1905,
"aa_end": null,
"aa_length": 2104,
"cds_start": 5714,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263115.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5663G>A",
"hgvs_p": "p.Arg1888Gln",
"transcript": "XM_011532091.3",
"protein_id": "XP_011530393.1",
"transcript_support_level": null,
"aa_start": 1888,
"aa_end": null,
"aa_length": 2087,
"cds_start": 5663,
"cds_end": null,
"cds_length": 6264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532091.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5663G>A",
"hgvs_p": "p.Arg1888Gln",
"transcript": "XM_047415909.1",
"protein_id": "XP_047271865.1",
"transcript_support_level": null,
"aa_start": 1888,
"aa_end": null,
"aa_length": 2087,
"cds_start": 5663,
"cds_end": null,
"cds_length": 6264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415909.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5654G>A",
"hgvs_p": "p.Arg1885Gln",
"transcript": "XM_011532092.3",
"protein_id": "XP_011530394.1",
"transcript_support_level": null,
"aa_start": 1885,
"aa_end": null,
"aa_length": 2084,
"cds_start": 5654,
"cds_end": null,
"cds_length": 6255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532092.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5654G>A",
"hgvs_p": "p.Arg1885Gln",
"transcript": "XM_017008369.3",
"protein_id": "XP_016863858.1",
"transcript_support_level": null,
"aa_start": 1885,
"aa_end": null,
"aa_length": 2084,
"cds_start": 5654,
"cds_end": null,
"cds_length": 6255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008369.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5603G>A",
"hgvs_p": "p.Arg1868Gln",
"transcript": "XM_047415910.1",
"protein_id": "XP_047271866.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 2067,
"cds_start": 5603,
"cds_end": null,
"cds_length": 6204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415910.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5540G>A",
"hgvs_p": "p.Arg1847Gln",
"transcript": "XM_047415911.1",
"protein_id": "XP_047271867.1",
"transcript_support_level": null,
"aa_start": 1847,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5540,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415911.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5489G>A",
"hgvs_p": "p.Arg1830Gln",
"transcript": "XM_017008370.2",
"protein_id": "XP_016863859.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 2029,
"cds_start": 5489,
"cds_end": null,
"cds_length": 6090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008370.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5489G>A",
"hgvs_p": "p.Arg1830Gln",
"transcript": "XM_047415912.1",
"protein_id": "XP_047271868.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 2029,
"cds_start": 5489,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415912.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5480G>A",
"hgvs_p": "p.Arg1827Gln",
"transcript": "XM_047415913.1",
"protein_id": "XP_047271869.1",
"transcript_support_level": null,
"aa_start": 1827,
"aa_end": null,
"aa_length": 2026,
"cds_start": 5480,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415913.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5480G>A",
"hgvs_p": "p.Arg1827Gln",
"transcript": "XM_047415914.1",
"protein_id": "XP_047271870.1",
"transcript_support_level": null,
"aa_start": 1827,
"aa_end": null,
"aa_length": 2026,
"cds_start": 5480,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415914.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5456G>A",
"hgvs_p": "p.Arg1819Gln",
"transcript": "XM_011532094.3",
"protein_id": "XP_011530396.1",
"transcript_support_level": null,
"aa_start": 1819,
"aa_end": null,
"aa_length": 2018,
"cds_start": 5456,
"cds_end": null,
"cds_length": 6057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532094.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZGRF1",
"gene_hgnc_id": 25654,
"hgvs_c": "c.5456G>A",
"hgvs_p": "p.Arg1819Gln",
"transcript": "XM_047415915.1",
"protein_id": "XP_047271871.1",
"transcript_support_level": null,
"aa_start": 1819,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}