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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: 4-40825926-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=40825926&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 40825926,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004307.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Val593Leu",
"transcript": "NM_004307.2",
"protein_id": "NP_004298.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 759,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000508593.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004307.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Val593Leu",
"transcript": "ENST00000508593.6",
"protein_id": "ENSP00000427211.1",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 759,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004307.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508593.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1708G>C",
"hgvs_p": "p.Val570Leu",
"transcript": "ENST00000513140.5",
"protein_id": "ENSP00000426018.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 736,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513140.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Val593Leu",
"transcript": "ENST00000894650.1",
"protein_id": "ENSP00000564709.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 759,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894650.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Val593Leu",
"transcript": "ENST00000894652.1",
"protein_id": "ENSP00000564711.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 759,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894652.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1777G>C",
"hgvs_p": "p.Val593Leu",
"transcript": "ENST00000971607.1",
"protein_id": "ENSP00000641666.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 759,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971607.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1774G>C",
"hgvs_p": "p.Val592Leu",
"transcript": "NM_001166050.2",
"protein_id": "NP_001159522.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 758,
"cds_start": 1774,
"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": "NM_001166050.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1774G>C",
"hgvs_p": "p.Val592Leu",
"transcript": "ENST00000295974.12",
"protein_id": "ENSP00000295974.8",
"transcript_support_level": 2,
"aa_start": 592,
"aa_end": null,
"aa_length": 758,
"cds_start": 1774,
"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": "ENST00000295974.12"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1774G>C",
"hgvs_p": "p.Val592Leu",
"transcript": "ENST00000912361.1",
"protein_id": "ENSP00000582420.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 758,
"cds_start": 1774,
"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": "ENST00000912361.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1774G>C",
"hgvs_p": "p.Val592Leu",
"transcript": "ENST00000912362.1",
"protein_id": "ENSP00000582421.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 758,
"cds_start": 1774,
"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": "ENST00000912362.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1774G>C",
"hgvs_p": "p.Val592Leu",
"transcript": "ENST00000971608.1",
"protein_id": "ENSP00000641667.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 758,
"cds_start": 1774,
"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": "ENST00000971608.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1771G>C",
"hgvs_p": "p.Val591Leu",
"transcript": "ENST00000894653.1",
"protein_id": "ENSP00000564712.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 757,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894653.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1711G>C",
"hgvs_p": "p.Val571Leu",
"transcript": "NM_001330656.2",
"protein_id": "NP_001317585.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 737,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330656.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1711G>C",
"hgvs_p": "p.Val571Leu",
"transcript": "NM_001330658.2",
"protein_id": "NP_001317587.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 737,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330658.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1711G>C",
"hgvs_p": "p.Val571Leu",
"transcript": "ENST00000506352.5",
"protein_id": "ENSP00000421539.1",
"transcript_support_level": 5,
"aa_start": 571,
"aa_end": null,
"aa_length": 737,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506352.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1708G>C",
"hgvs_p": "p.Val570Leu",
"transcript": "NM_173075.5",
"protein_id": "NP_775098.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 736,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173075.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Val561Leu",
"transcript": "ENST00000513611.5",
"protein_id": "ENSP00000427307.1",
"transcript_support_level": 5,
"aa_start": 561,
"aa_end": null,
"aa_length": 727,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513611.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Val44Leu",
"transcript": "NM_001166051.2",
"protein_id": "NP_001159523.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 210,
"cds_start": 130,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166051.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Val44Leu",
"transcript": "NM_001166052.2",
"protein_id": "NP_001159524.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 210,
"cds_start": 130,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166052.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Val44Leu",
"transcript": "NM_001166053.1",
"protein_id": "NP_001159525.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 210,
"cds_start": 130,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166053.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Val44Leu",
"transcript": "NM_001166054.1",
"protein_id": "NP_001159526.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 210,
"cds_start": 130,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166054.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB2",
"gene_hgnc_id": 582,
"hgvs_c": "c.130G>C",
"hgvs_p": "p.Val44Leu",
"transcript": "ENST00000502841.5",
"protein_id": "ENSP00000425802.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 210,
"cds_start": 130,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
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}
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"message": null
}