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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: 15-74902717-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74902717&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74902717,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020447.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Glu167Lys",
"transcript": "NM_020447.5",
"protein_id": "NP_065180.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 198,
"cds_start": 499,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357635.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020447.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Glu167Lys",
"transcript": "ENST00000357635.10",
"protein_id": "ENSP00000350260.5",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 198,
"cds_start": 499,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020447.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357635.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Glu167Lys",
"transcript": "ENST00000563119.5",
"protein_id": "ENSP00000454719.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 198,
"cds_start": 499,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563119.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Glu166Lys",
"transcript": "ENST00000562698.5",
"protein_id": "ENSP00000454277.1",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 167,
"cds_start": 496,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562698.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Glu81Lys",
"transcript": "ENST00000565772.5",
"protein_id": "ENSP00000455248.1",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 112,
"cds_start": 241,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565772.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Glu167Lys",
"transcript": "NM_001321920.2",
"protein_id": "NP_001308849.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 198,
"cds_start": 499,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321920.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Glu167Lys",
"transcript": "NM_001321921.2",
"protein_id": "NP_001308850.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 198,
"cds_start": 499,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321921.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Glu166Lys",
"transcript": "NM_001321922.2",
"protein_id": "NP_001308851.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 197,
"cds_start": 496,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321922.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Glu166Lys",
"transcript": "NM_001321923.2",
"protein_id": "NP_001308852.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 197,
"cds_start": 496,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321923.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Glu141Lys",
"transcript": "ENST00000937931.1",
"protein_id": "ENSP00000607990.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 172,
"cds_start": 421,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937931.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Glu136Lys",
"transcript": "ENST00000878718.1",
"protein_id": "ENSP00000548777.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 167,
"cds_start": 406,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878718.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Glu133Lys",
"transcript": "ENST00000878719.1",
"protein_id": "ENSP00000548778.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 164,
"cds_start": 397,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878719.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Glu167Lys",
"transcript": "XM_047432883.1",
"protein_id": "XP_047288839.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 198,
"cds_start": 499,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432883.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Glu166Lys",
"transcript": "XM_017022433.3",
"protein_id": "XP_016877922.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 197,
"cds_start": 496,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022433.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Glu166Lys",
"transcript": "XM_047432884.1",
"protein_id": "XP_047288840.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 197,
"cds_start": 496,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432884.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "n.*130G>A",
"hgvs_p": null,
"transcript": "ENST00000563069.5",
"protein_id": "ENSP00000457594.1",
"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": "ENST00000563069.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "n.*189G>A",
"hgvs_p": null,
"transcript": "ENST00000563413.5",
"protein_id": "ENSP00000457328.1",
"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": "ENST00000563413.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "n.490G>A",
"hgvs_p": null,
"transcript": "ENST00000563671.5",
"protein_id": "ENSP00000456404.1",
"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": "ENST00000563671.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "n.569G>A",
"hgvs_p": null,
"transcript": "ENST00000563706.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000563706.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "n.*189G>A",
"hgvs_p": null,
"transcript": "ENST00000563877.5",
"protein_id": "ENSP00000456406.1",
"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": "ENST00000563877.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "n.*158G>A",
"hgvs_p": null,
"transcript": "ENST00000564019.1",
"protein_id": "ENSP00000456744.1",
"transcript_support_level": 4,
"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": "ENST00000564019.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM219B",
"gene_hgnc_id": 24695,
"hgvs_c": "n.870G>A",
"hgvs_p": null,
"transcript": "ENST00000564857.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000564857.1"
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}