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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: 8-6406682-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=6406682&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 6406682,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024596.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_024596.5",
"protein_id": "NP_078872.3",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 835,
"cds_start": 15,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 8008,
"mane_select": "ENST00000344683.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000344683.10",
"protein_id": "ENSP00000342924.5",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 835,
"cds_start": 15,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 8008,
"mane_select": "NM_024596.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000519480.6",
"protein_id": "ENSP00000430962.1",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 610,
"cds_start": 15,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 3773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000692836.1",
"protein_id": "ENSP00000509971.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 890,
"cds_start": 15,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 29,
"cdna_end": null,
"cdna_length": 5399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_001322042.2",
"protein_id": "NP_001308971.2",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 875,
"cds_start": 15,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 8150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000689348.1",
"protein_id": "ENSP00000509554.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 875,
"cds_start": 15,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_001410917.1",
"protein_id": "NP_001397846.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 871,
"cds_start": 15,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000692938.1",
"protein_id": "ENSP00000509072.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 871,
"cds_start": 15,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 74,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_001363979.1",
"protein_id": "NP_001350908.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 830,
"cds_start": 15,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000690826.1",
"protein_id": "ENSP00000510536.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 830,
"cds_start": 15,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_001410916.1",
"protein_id": "NP_001397845.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 744,
"cds_start": 15,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000691435.1",
"protein_id": "ENSP00000510652.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 744,
"cds_start": 15,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 36,
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"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_001363980.2",
"protein_id": "NP_001350909.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 742,
"cds_start": 15,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 56,
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"cdna_length": 7729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000689633.1",
"protein_id": "ENSP00000509054.1",
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"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_001172574.2",
"protein_id": "NP_001166045.2",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 610,
"cds_start": 15,
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"cdna_start": 56,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_001322043.2",
"protein_id": "NP_001308972.2",
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"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000685179.1",
"protein_id": "ENSP00000510001.1",
"transcript_support_level": null,
"aa_start": 5,
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"cds_start": 15,
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"cdna_start": 71,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000686750.1",
"protein_id": "ENSP00000509053.1",
"transcript_support_level": null,
"aa_start": 5,
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"aa_length": 580,
"cds_start": 15,
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"cdna_start": 58,
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},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "NM_001172575.2",
"protein_id": "NP_001166046.1",
"transcript_support_level": null,
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},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000522905.1",
"protein_id": "ENSP00000430768.1",
"transcript_support_level": 2,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"intron_rank": null,
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"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000690708.1",
"protein_id": "ENSP00000510400.1",
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"cdna_start": 56,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
"transcript": "ENST00000689736.1",
"protein_id": "ENSP00000509722.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 364,
"cds_start": 15,
"cds_end": null,
"cds_length": 1096,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Ile5Met",
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
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}
],
"message": null
}