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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: 12-57254973-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57254973&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57254973,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001351204.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2773G>A",
"hgvs_p": "p.Gly925Arg",
"transcript": "NM_001394031.1",
"protein_id": "NP_001380960.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 990,
"cds_start": 2773,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402412.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394031.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2773G>A",
"hgvs_p": "p.Gly925Arg",
"transcript": "ENST00000402412.6",
"protein_id": "ENSP00000385839.1",
"transcript_support_level": 1,
"aa_start": 925,
"aa_end": null,
"aa_length": 990,
"cds_start": 2773,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394031.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402412.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Gly911Arg",
"transcript": "ENST00000347140.7",
"protein_id": "ENSP00000317903.6",
"transcript_support_level": 1,
"aa_start": 911,
"aa_end": null,
"aa_length": 976,
"cds_start": 2731,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347140.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "n.2567G>A",
"hgvs_p": null,
"transcript": "ENST00000393811.6",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000393811.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258830",
"gene_hgnc_id": null,
"hgvs_c": "n.*1682+1017G>A",
"hgvs_p": null,
"transcript": "ENST00000548184.1",
"protein_id": "ENSP00000477227.1",
"transcript_support_level": 2,
"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": "ENST00000548184.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2929G>A",
"hgvs_p": "p.Gly977Arg",
"transcript": "NM_001351204.2",
"protein_id": "NP_001338133.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351204.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2929G>A",
"hgvs_p": "p.Gly977Arg",
"transcript": "NM_001351205.2",
"protein_id": "NP_001338134.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351205.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2929G>A",
"hgvs_p": "p.Gly977Arg",
"transcript": "NM_001351206.2",
"protein_id": "NP_001338135.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351206.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2899G>A",
"hgvs_p": "p.Gly967Arg",
"transcript": "NM_001351207.2",
"protein_id": "NP_001338136.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2899,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351207.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2875G>A",
"hgvs_p": "p.Gly959Arg",
"transcript": "NM_001351208.2",
"protein_id": "NP_001338137.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2875,
"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": "NM_001351208.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2869G>A",
"hgvs_p": "p.Gly957Arg",
"transcript": "ENST00000945082.1",
"protein_id": "ENSP00000615141.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945082.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2833G>A",
"hgvs_p": "p.Gly945Arg",
"transcript": "NM_001330121.2",
"protein_id": "NP_001317050.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330121.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2833G>A",
"hgvs_p": "p.Gly945Arg",
"transcript": "NM_001330122.2",
"protein_id": "NP_001317051.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330122.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2833G>A",
"hgvs_p": "p.Gly945Arg",
"transcript": "ENST00000403821.6",
"protein_id": "ENSP00000385169.2",
"transcript_support_level": 5,
"aa_start": 945,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403821.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Gly943Arg",
"transcript": "NM_001351209.2",
"protein_id": "NP_001338138.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351209.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Gly943Arg",
"transcript": "ENST00000878714.1",
"protein_id": "ENSP00000548773.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878714.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Gly943Arg",
"transcript": "ENST00000878715.1",
"protein_id": "ENSP00000548774.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878715.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Gly943Arg",
"transcript": "ENST00000878717.1",
"protein_id": "ENSP00000548776.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878717.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2797G>A",
"hgvs_p": "p.Gly933Arg",
"transcript": "NM_001351211.2",
"protein_id": "NP_001338140.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 998,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351211.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2797G>A",
"hgvs_p": "p.Gly933Arg",
"transcript": "ENST00000878710.1",
"protein_id": "ENSP00000548769.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 998,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878710.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2797G>A",
"hgvs_p": "p.Gly933Arg",
"transcript": "ENST00000878711.1",
"protein_id": "ENSP00000548770.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 998,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878711.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2797G>A",
"hgvs_p": "p.Gly933Arg",
"transcript": "ENST00000945076.1",
"protein_id": "ENSP00000615135.1",
"transcript_support_level": null,
"aa_start": 933,
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}