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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: 5-178931376-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178931376&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 178931376,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030613.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "NM_030613.4",
"protein_id": "NP_085116.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": "ENST00000361362.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030613.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000361362.7",
"protein_id": "ENSP00000354453.2",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": "NM_030613.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361362.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000523286.1",
"protein_id": "ENSP00000430531.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523286.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000520301.5",
"protein_id": "ENSP00000430980.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520301.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896567.1",
"protein_id": "ENSP00000566626.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896567.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896568.1",
"protein_id": "ENSP00000566627.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896568.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896569.1",
"protein_id": "ENSP00000566628.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896569.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896570.1",
"protein_id": "ENSP00000566629.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896570.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896571.1",
"protein_id": "ENSP00000566630.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896571.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896572.1",
"protein_id": "ENSP00000566631.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896572.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896573.1",
"protein_id": "ENSP00000566632.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896573.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896574.1",
"protein_id": "ENSP00000566633.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896574.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896575.1",
"protein_id": "ENSP00000566634.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896575.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896576.1",
"protein_id": "ENSP00000566635.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896576.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896577.1",
"protein_id": "ENSP00000566636.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896577.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000896578.1",
"protein_id": "ENSP00000566637.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896578.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000916756.1",
"protein_id": "ENSP00000586815.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916756.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000916757.1",
"protein_id": "ENSP00000586816.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916757.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000916758.1",
"protein_id": "ENSP00000586817.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916758.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000916759.1",
"protein_id": "ENSP00000586818.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916759.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000916760.1",
"protein_id": "ENSP00000586819.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916760.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFP2",
"gene_hgnc_id": 26138,
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe",
"transcript": "ENST00000916761.1",
"protein_id": "ENSP00000586820.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 461,
"cds_start": 63,
"cds_end": null,
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"cdna_start": 578,
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{
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],
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},
{
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},
{
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],
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},
{
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],
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{
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],
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"biotype": "pseudogene",
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},
{
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],
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},
{
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"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "ZFP2",
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"transcript": "ENST00000520805.5",
"protein_id": "ENSP00000431074.1",
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"biotype": "protein_coding",
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}
],
"gene_symbol": "ZFP2",
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"dbsnp": "rs1758833143",
"frequency_reference_population": 6.841424e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84142e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0575043261051178,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.015,
"revel_prediction": "Benign",
"alphamissense_score": 0.0857,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.583,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_030613.4",
"gene_symbol": "ZFP2",
"hgnc_id": 26138,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.63A>C",
"hgvs_p": "p.Leu21Phe"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000789536.1",
"gene_symbol": "ZNF454-DT",
"hgnc_id": 55213,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.941+8676T>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}