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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: 15-22858576-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=22858576&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 22858576,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_030922.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "NM_030922.7",
"protein_id": "NP_112184.4",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": "ENST00000337451.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "ENST00000337451.8",
"protein_id": "ENSP00000337618.3",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": "NM_030922.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "ENST00000398013.7",
"protein_id": "ENSP00000381095.3",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Ala59Val",
"transcript": "ENST00000359727.8",
"protein_id": "ENSP00000352762.4",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 341,
"cds_start": 176,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "NM_001008860.3",
"protein_id": "NP_001008860.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "NM_001008892.3",
"protein_id": "NP_001008892.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "NM_001184889.2",
"protein_id": "NP_001171818.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "NM_001437491.1",
"protein_id": "NP_001424420.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "NM_001437498.1",
"protein_id": "NP_001424427.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "ENST00000674173.1",
"protein_id": "ENSP00000501408.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "ENST00000674289.1",
"protein_id": "ENSP00000501412.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "ENST00000674330.1",
"protein_id": "ENSP00000501373.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "ENST00000674477.1",
"protein_id": "ENSP00000501489.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Ala59Val",
"transcript": "NM_001008894.3",
"protein_id": "NP_001008894.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 341,
"cds_start": 176,
"cds_end": null,
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"cdna_start": 525,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Ala59Val",
"transcript": "NM_001184888.2",
"protein_id": "NP_001171817.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 341,
"cds_start": 176,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Ala59Val",
"transcript": "NM_001438100.1",
"protein_id": "NP_001425029.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 341,
"cds_start": 176,
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"cdna_start": 783,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Ala59Val",
"transcript": "ENST00000398014.7",
"protein_id": "ENSP00000381096.3",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 341,
"cds_start": 176,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Ala59Val",
"transcript": "ENST00000539711.2",
"protein_id": "ENSP00000437746.2",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 341,
"cds_start": 176,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "XM_005272546.4",
"protein_id": "XP_005272603.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
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"cdna_start": 1093,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "XM_005272547.5",
"protein_id": "XP_005272604.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
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"cds_length": 1083,
"cdna_start": 866,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "XM_005272550.4",
"protein_id": "XP_005272607.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "XM_005272553.6",
"protein_id": "XP_005272610.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 360,
"cds_start": 233,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPA2",
"gene_hgnc_id": 17044,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ala78Val",
"transcript": "XM_006720364.3",
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}