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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: 2-71349549-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71349549&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71349549,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014497.5",
"consequences": [
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "NM_014497.5",
"protein_id": "NP_055312.2",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1978,
"cds_start": 595,
"cds_end": null,
"cds_length": 5937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264447.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014497.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000264447.9",
"protein_id": "ENSP00000264447.4",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 1978,
"cds_start": 595,
"cds_end": null,
"cds_length": 5937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014497.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264447.9"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000409544.5",
"protein_id": "ENSP00000386433.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 1978,
"cds_start": 595,
"cds_end": null,
"cds_length": 5937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409544.5"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Leu305Phe",
"transcript": "ENST00000410075.6",
"protein_id": "ENSP00000485608.2",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 1024,
"cds_start": 913,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410075.6"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "NM_001014972.3",
"protein_id": "NP_001014972.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1978,
"cds_start": 595,
"cds_end": null,
"cds_length": 5937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014972.3"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "NM_001252612.2",
"protein_id": "NP_001239541.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1978,
"cds_start": 595,
"cds_end": null,
"cds_length": 5937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252612.2"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000892310.1",
"protein_id": "ENSP00000562369.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1978,
"cds_start": 595,
"cds_end": null,
"cds_length": 5937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892310.1"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000919370.1",
"protein_id": "ENSP00000589429.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1978,
"cds_start": 595,
"cds_end": null,
"cds_length": 5937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919370.1"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000718086.1",
"protein_id": "ENSP00000520664.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1959,
"cds_start": 595,
"cds_end": null,
"cds_length": 5880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718086.1"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "NM_001252613.2",
"protein_id": "NP_001239542.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1957,
"cds_start": 595,
"cds_end": null,
"cds_length": 5874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252613.2"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000919373.1",
"protein_id": "ENSP00000589432.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1957,
"cds_start": 595,
"cds_end": null,
"cds_length": 5874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919373.1"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000718087.1",
"protein_id": "ENSP00000520665.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1956,
"cds_start": 595,
"cds_end": null,
"cds_length": 5871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718087.1"
},
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000919371.1",
"protein_id": "ENSP00000589430.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1936,
"cds_start": 595,
"cds_end": null,
"cds_length": 5811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919371.1"
},
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000919374.1",
"protein_id": "ENSP00000589433.1",
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"aa_start": 199,
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"aa_length": 1936,
"cds_start": 595,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919374.1"
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000892311.1",
"protein_id": "ENSP00000562370.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1909,
"cds_start": 595,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892311.1"
},
{
"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": 13,
"intron_rank": null,
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"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe",
"transcript": "ENST00000919372.1",
"protein_id": "ENSP00000589431.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 887,
"cds_start": 595,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.117-13604C>T",
"hgvs_p": null,
"transcript": "ENST00000466975.6",
"protein_id": "ENSP00000485154.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 1557,
"cds_start": null,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466975.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.-84-6170C>T",
"hgvs_p": null,
"transcript": "ENST00000466330.5",
"protein_id": "ENSP00000485494.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000466330.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.117-6170C>T",
"hgvs_p": null,
"transcript": "ENST00000718085.1",
"protein_id": "ENSP00000520663.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718085.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.-216-6170C>T",
"hgvs_p": null,
"transcript": "ENST00000464375.5",
"protein_id": "ENSP00000485266.1",
"transcript_support_level": 3,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000464375.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.-216-6170C>T",
"hgvs_p": null,
"transcript": "ENST00000475743.1",
"protein_id": "ENSP00000485169.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475743.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "n.117-6170C>T",
"hgvs_p": null,
"transcript": "ENST00000494621.6",
"protein_id": "ENSP00000485618.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494621.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"hgvs_c": "c.*4C>T",
"hgvs_p": null,
"transcript": "ENST00000437658.2",
"protein_id": "ENSP00000388164.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437658.2"
}
],
"gene_symbol": "ZNF638",
"gene_hgnc_id": 17894,
"dbsnp": "rs572307441",
"frequency_reference_population": 0.000008053854,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000752455,
"gnomad_genomes_af": 0.0000131361,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06569865345954895,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.0947,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.612,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014497.5",
"gene_symbol": "ZNF638",
"hgnc_id": 17894,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Leu199Phe"
}
],
"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
}