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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: 17-62725063-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=62725063&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 62725063,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000311269.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Arg660His",
"transcript": "NM_152598.4",
"protein_id": "NP_689811.2",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 808,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "ENST00000311269.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Arg660His",
"transcript": "ENST00000311269.10",
"protein_id": "ENSP00000311496.5",
"transcript_support_level": 2,
"aa_start": 660,
"aa_end": null,
"aa_length": 808,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "NM_152598.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Arg698His",
"transcript": "ENST00000583600.5",
"protein_id": "ENSP00000463080.1",
"transcript_support_level": 1,
"aa_start": 698,
"aa_end": null,
"aa_length": 846,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Arg660His",
"transcript": "ENST00000456609.6",
"protein_id": "ENSP00000416177.2",
"transcript_support_level": 1,
"aa_start": 660,
"aa_end": null,
"aa_length": 808,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 3057,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265702",
"gene_hgnc_id": 58173,
"hgvs_c": "n.237-965C>T",
"hgvs_p": null,
"transcript": "ENST00000577270.1",
"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": 3145,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265702",
"gene_hgnc_id": 58173,
"hgvs_c": "n.441-11023C>T",
"hgvs_p": null,
"transcript": "ENST00000582564.1",
"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": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Arg698His",
"transcript": "NM_001288779.2",
"protein_id": "NP_001275708.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 846,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Arg660His",
"transcript": "NM_001100875.3",
"protein_id": "NP_001094345.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 808,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659His",
"transcript": "NM_001288780.2",
"protein_id": "NP_001275709.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 799,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659His",
"transcript": "ENST00000544856.6",
"protein_id": "ENSP00000443746.2",
"transcript_support_level": 2,
"aa_start": 659,
"aa_end": null,
"aa_length": 799,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "ENST00000580520.5",
"protein_id": "ENSP00000464220.1",
"transcript_support_level": 5,
"aa_start": 528,
"aa_end": null,
"aa_length": 693,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Arg698His",
"transcript": "XM_005257095.4",
"protein_id": "XP_005257152.2",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 863,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Arg698His",
"transcript": "XM_005257096.3",
"protein_id": "XP_005257153.2",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 863,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Arg698His",
"transcript": "XM_005257097.3",
"protein_id": "XP_005257154.2",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
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"cds_start": 2093,
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"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.2090G>A",
"hgvs_p": "p.Arg697His",
"transcript": "XM_005257098.4",
"protein_id": "XP_005257155.2",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 862,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2345,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.2090G>A",
"hgvs_p": "p.Arg697His",
"transcript": "XM_011524435.3",
"protein_id": "XP_011522737.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 862,
"cds_start": 2090,
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"cdna_start": 2345,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Arg660His",
"transcript": "XM_005257100.4",
"protein_id": "XP_005257157.2",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 825,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Arg660His",
"transcript": "XM_011524436.2",
"protein_id": "XP_011522738.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 825,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659His",
"transcript": "XM_005257102.4",
"protein_id": "XP_005257159.2",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 824,
"cds_start": 1976,
"cds_end": null,
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"cdna_start": 2231,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659His",
"transcript": "XM_011524437.3",
"protein_id": "XP_011522739.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 807,
"cds_start": 1976,
"cds_end": null,
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"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659His",
"transcript": "XM_005257103.3",
"protein_id": "XP_005257160.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 799,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587His",
"transcript": "XM_005257106.4",
"protein_id": "XP_005257163.2",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 752,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 2822,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF10",
"gene_hgnc_id": 26655,
"hgvs_c": "n.2348G>A",
"hgvs_p": null,
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"phylop100way_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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{
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}