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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: 3-10289835-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10289835&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 10289835,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000335542.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "NM_016362.5",
"protein_id": "NP_057446.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 117,
"cds_start": 152,
"cds_end": null,
"cds_length": 354,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": "ENST00000335542.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000335542.13",
"protein_id": "ENSP00000335074.8",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 117,
"cds_start": 152,
"cds_end": null,
"cds_length": 354,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": "NM_016362.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000429122.1",
"protein_id": "ENSP00000414819.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 117,
"cds_start": 152,
"cds_end": null,
"cds_length": 354,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000457360.5",
"protein_id": "ENSP00000391406.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 117,
"cds_start": 152,
"cds_end": null,
"cds_length": 354,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Arg50Gln",
"transcript": "ENST00000287656.11",
"protein_id": "ENSP00000287656.7",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 116,
"cds_start": 149,
"cds_end": null,
"cds_length": 351,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Arg50Gln",
"transcript": "ENST00000430179.5",
"protein_id": "ENSP00000399922.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 116,
"cds_start": 149,
"cds_end": null,
"cds_length": 351,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "ENST00000437422.6",
"protein_id": "ENSP00000416768.2",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 105,
"cds_start": 116,
"cds_end": null,
"cds_length": 318,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "ENST00000449238.6",
"protein_id": "ENSP00000388145.2",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 104,
"cds_start": 113,
"cds_end": null,
"cds_length": 315,
"cdna_start": 117,
"cdna_end": null,
"cdna_length": 440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "ENST00000422159.5",
"protein_id": "ENSP00000405464.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 91,
"cds_start": 152,
"cds_end": null,
"cds_length": 276,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "n.329G>A",
"hgvs_p": null,
"transcript": "ENST00000481287.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.72+3007G>A",
"hgvs_p": null,
"transcript": "ENST00000439975.6",
"protein_id": "ENSP00000403725.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": -4,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.72+3007G>A",
"hgvs_p": null,
"transcript": "ENST00000446937.2",
"protein_id": "ENSP00000394923.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": -4,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.326+1733C>T",
"hgvs_p": null,
"transcript": "ENST00000439539.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.326+1733C>T",
"hgvs_p": null,
"transcript": "ENST00000605014.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GHRLOS",
"gene_hgnc_id": 33885,
"hgvs_c": "n.101-2233C>T",
"hgvs_p": null,
"transcript": "ENST00000605105.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "NM_001302821.2",
"protein_id": "NP_001289750.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 117,
"cds_start": 152,
"cds_end": null,
"cds_length": 354,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "NM_001302822.2",
"protein_id": "NP_001289751.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 117,
"cds_start": 152,
"cds_end": null,
"cds_length": 354,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "NM_001302824.2",
"protein_id": "NP_001289753.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 117,
"cds_start": 152,
"cds_end": null,
"cds_length": 354,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51Gln",
"transcript": "NM_001302825.2",
"protein_id": "NP_001289754.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 117,
"cds_start": 152,
"cds_end": null,
"cds_length": 354,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Arg50Gln",
"transcript": "NM_001134941.3",
"protein_id": "NP_001128413.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 116,
"cds_start": 149,
"cds_end": null,
"cds_length": 351,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Arg50Gln",
"transcript": "NM_001302823.2",
"protein_id": "NP_001289752.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 116,
"cds_start": 149,
"cds_end": null,
"cds_length": 351,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39Gln",
"transcript": "NM_001134944.2",
"protein_id": "NP_001128416.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 105,
"cds_start": 116,
"cds_end": null,
"cds_length": 318,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GHRL",
"gene_hgnc_id": 18129,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38Gln",
"transcript": "NM_001134945.2",
"protein_id": "NP_001128417.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 104,
"cds_start": 113,
"cds_end": null,
"cds_length": 315,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
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],
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"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Metabolic syndrome, susceptibility to|Obesity",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}