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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: 10-67954629-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=67954629&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 67954629,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022079.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Tyr768Cys",
"transcript": "NM_015601.4",
"protein_id": "NP_056416.2",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": "ENST00000373700.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015601.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Tyr768Cys",
"transcript": "ENST00000373700.9",
"protein_id": "ENSP00000362804.4",
"transcript_support_level": 1,
"aa_start": 768,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": "NM_015601.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373700.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Tyr776Cys",
"transcript": "ENST00000395198.7",
"protein_id": "ENSP00000378624.3",
"transcript_support_level": 1,
"aa_start": 776,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2327,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395198.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Tyr776Cys",
"transcript": "ENST00000412272.6",
"protein_id": "ENSP00000416504.2",
"transcript_support_level": 1,
"aa_start": 776,
"aa_end": null,
"aa_length": 979,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412272.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.1997A>G",
"hgvs_p": "p.Tyr666Cys",
"transcript": "ENST00000277817.10",
"protein_id": "ENSP00000277817.6",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 947,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277817.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "n.*1697A>G",
"hgvs_p": null,
"transcript": "ENST00000473533.6",
"protein_id": "ENSP00000423671.1",
"transcript_support_level": 1,
"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": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473533.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "n.*1697A>G",
"hgvs_p": null,
"transcript": "ENST00000473533.6",
"protein_id": "ENSP00000423671.1",
"transcript_support_level": 1,
"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": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473533.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2420A>G",
"hgvs_p": "p.Tyr807Cys",
"transcript": "ENST00000930767.1",
"protein_id": "ENSP00000600826.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2420,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930767.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2420A>G",
"hgvs_p": "p.Tyr807Cys",
"transcript": "ENST00000946404.1",
"protein_id": "ENSP00000616463.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2420,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2931,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946404.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2396A>G",
"hgvs_p": "p.Tyr799Cys",
"transcript": "ENST00000868738.1",
"protein_id": "ENSP00000538797.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2396,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 2944,
"cdna_end": null,
"cdna_length": 4817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868738.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2396A>G",
"hgvs_p": "p.Tyr799Cys",
"transcript": "ENST00000868741.1",
"protein_id": "ENSP00000538800.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2396,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 2562,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868741.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2393A>G",
"hgvs_p": "p.Tyr798Cys",
"transcript": "ENST00000946407.1",
"protein_id": "ENSP00000616466.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2393,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 2584,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946407.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2378A>G",
"hgvs_p": "p.Tyr793Cys",
"transcript": "ENST00000868739.1",
"protein_id": "ENSP00000538798.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2378,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 2549,
"cdna_end": null,
"cdna_length": 3842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868739.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Tyr776Cys",
"transcript": "NM_022079.3",
"protein_id": "NP_071362.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2327,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022079.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Tyr776Cys",
"transcript": "ENST00000868742.1",
"protein_id": "ENSP00000538801.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2327,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868742.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Tyr776Cys",
"transcript": "ENST00000930771.1",
"protein_id": "ENSP00000600830.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2327,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930771.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Tyr768Cys",
"transcript": "ENST00000868737.1",
"protein_id": "ENSP00000538796.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 3091,
"cdna_end": null,
"cdna_length": 4964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868737.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Tyr768Cys",
"transcript": "ENST00000868744.1",
"protein_id": "ENSP00000538803.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2725,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868744.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Tyr768Cys",
"transcript": "ENST00000930772.1",
"protein_id": "ENSP00000600831.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 3245,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930772.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Tyr768Cys",
"transcript": "ENST00000946405.1",
"protein_id": "ENSP00000616464.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946405.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Tyr768Cys",
"transcript": "ENST00000946406.1",
"protein_id": "ENSP00000616465.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946406.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2303A>G",
"hgvs_p": "p.Tyr768Cys",
"transcript": "ENST00000946412.1",
"protein_id": "ENSP00000616471.1",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}