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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: 7-100893176-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100893176&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100893176,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001367918.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "NM_000665.5",
"protein_id": "NP_000656.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": "ENST00000241069.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000665.5"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000241069.11",
"protein_id": "ENSP00000241069.5",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": "NM_000665.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000241069.11"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000302913.8",
"protein_id": "ENSP00000303211.4",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 617,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302913.8"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000411582.4",
"protein_id": "ENSP00000404865.1",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 617,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411582.4"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000412389.5",
"protein_id": "ENSP00000394976.1",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412389.5"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000428317.7",
"protein_id": "ENSP00000414858.1",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428317.7"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000419336.6",
"protein_id": "ENSP00000403474.2",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 526,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419336.6"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1258C>A",
"hgvs_p": "p.His420Asn",
"transcript": "NM_001367918.1",
"protein_id": "NP_001354847.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 681,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367918.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.His419Asn",
"transcript": "NM_001367919.2",
"protein_id": "NP_001354848.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 680,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367919.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "NM_001302621.3",
"protein_id": "NP_001289550.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 617,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302621.3"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "NM_001302622.2",
"protein_id": "NP_001289551.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302622.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "NM_001367915.1",
"protein_id": "NP_001354844.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367915.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "NM_001367917.1",
"protein_id": "NP_001354846.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367917.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000894903.1",
"protein_id": "ENSP00000564962.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
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"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894903.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000894904.1",
"protein_id": "ENSP00000564963.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
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"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894904.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000894905.1",
"protein_id": "ENSP00000564964.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894905.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000894906.1",
"protein_id": "ENSP00000564965.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894906.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000894907.1",
"protein_id": "ENSP00000564966.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
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"cdna_start": 1511,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894907.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000894908.1",
"protein_id": "ENSP00000564967.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
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"cdna_start": 1647,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894908.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000894909.1",
"protein_id": "ENSP00000564968.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
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"cds_start": 1057,
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"cdna_start": 1151,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894909.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000894910.1",
"protein_id": "ENSP00000564969.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894910.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACHE",
"gene_hgnc_id": 108,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.His353Asn",
"transcript": "ENST00000894911.1",
"protein_id": "ENSP00000564970.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 614,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2117,
"cdna_end": null,
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}