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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: X-102602626-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=102602626&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 102602626,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022838.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "NM_001168478.2",
"protein_id": "NP_001161950.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000473968.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168478.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000473968.7",
"protein_id": "ENSP00000473737.2",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001168478.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473968.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000479502.2",
"protein_id": "ENSP00000474470.2",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479502.2"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271147",
"gene_hgnc_id": null,
"hgvs_c": "n.466+649C>T",
"hgvs_p": null,
"transcript": "ENST00000466616.6",
"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": "pseudogene",
"feature": "ENST00000466616.6"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271147",
"gene_hgnc_id": null,
"hgvs_c": "n.568+649C>T",
"hgvs_p": null,
"transcript": "ENST00000476910.6",
"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": "pseudogene",
"feature": "ENST00000476910.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "NM_001168479.2",
"protein_id": "NP_001161951.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168479.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "NM_001168480.2",
"protein_id": "NP_001161952.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168480.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "NM_001168482.2",
"protein_id": "NP_001161954.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168482.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "NM_001168485.2",
"protein_id": "NP_001161957.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168485.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "NM_022838.4",
"protein_id": "NP_073749.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022838.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000246174.6",
"protein_id": "ENSP00000246174.2",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246174.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000372742.1",
"protein_id": "ENSP00000361827.1",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372742.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000477663.6",
"protein_id": "ENSP00000474484.2",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477663.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000604957.1",
"protein_id": "ENSP00000474720.1",
"transcript_support_level": 6,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604957.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000859969.1",
"protein_id": "ENSP00000530028.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859969.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000859970.1",
"protein_id": "ENSP00000530029.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859970.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000859971.1",
"protein_id": "ENSP00000530030.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859971.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000859972.1",
"protein_id": "ENSP00000530031.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859972.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000859973.1",
"protein_id": "ENSP00000530032.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859973.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000859974.1",
"protein_id": "ENSP00000530033.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859974.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000859975.1",
"protein_id": "ENSP00000530034.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859975.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARMCX5",
"gene_hgnc_id": 25772,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Phe",
"transcript": "ENST00000859976.1",
"protein_id": "ENSP00000530035.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 558,
"cds_start": 485,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859976.1"
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{
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}