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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: 4-40243530-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=40243530&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 40243530,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000381799.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_004310.5",
"protein_id": "NP_004301.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": "ENST00000381799.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "ENST00000381799.10",
"protein_id": "ENSP00000371219.4",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": "NM_004310.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278359.2",
"protein_id": "NP_001265288.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278360.2",
"protein_id": "NP_001265289.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278361.2",
"protein_id": "NP_001265290.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278362.2",
"protein_id": "NP_001265291.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 4235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278363.2",
"protein_id": "NP_001265292.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278364.2",
"protein_id": "NP_001265293.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278365.2",
"protein_id": "NP_001265294.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278366.2",
"protein_id": "NP_001265295.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278367.2",
"protein_id": "NP_001265296.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278368.2",
"protein_id": "NP_001265297.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001278369.2",
"protein_id": "NP_001265298.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "NM_001440378.1",
"protein_id": "NP_001427307.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 815,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "ENST00000503754.6",
"protein_id": "ENSP00000514769.1",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "ENST00000503941.6",
"protein_id": "ENSP00000426439.2",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
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"cdna_start": 624,
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"cdna_length": 1056,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "ENST00000503978.2",
"protein_id": "ENSP00000514775.1",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "ENST00000505618.6",
"protein_id": "ENSP00000425010.1",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "ENST00000507851.6",
"protein_id": "ENSP00000423384.2",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
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"cds_start": 144,
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"cdna_start": 631,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "ENST00000508513.6",
"protein_id": "ENSP00000422241.2",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
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"cdna_start": 970,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "ENST00000511121.6",
"protein_id": "ENSP00000420866.2",
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"aa_start": 48,
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"aa_length": 191,
"cds_start": 144,
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"cdna_start": 696,
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"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "ENST00000511967.6",
"protein_id": "ENSP00000514770.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.144T>G",
"hgvs_p": "p.Asp48Glu",
"transcript": "ENST00000513894.6",
"protein_id": "ENSP00000514771.1",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 191,
"cds_start": 144,
"cds_end": null,
"cds_length": 576,
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}
],
"message": null
}