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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: 2-73950650-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73950650&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73950650,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000264093.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Gln170Arg",
"transcript": "NM_080916.3",
"protein_id": "NP_550438.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 277,
"cds_start": 509,
"cds_end": null,
"cds_length": 834,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": "ENST00000264093.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Gln170Arg",
"transcript": "ENST00000264093.9",
"protein_id": "ENSP00000264093.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 277,
"cds_start": 509,
"cds_end": null,
"cds_length": 834,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": "NM_080916.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.*126A>G",
"hgvs_p": null,
"transcript": "ENST00000629438.2",
"protein_id": "ENSP00000487122.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": -4,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1029,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "n.*60+3744A>G",
"hgvs_p": null,
"transcript": "ENST00000418996.5",
"protein_id": "ENSP00000408209.1",
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Gln73Arg",
"transcript": "NM_001318860.2",
"protein_id": "NP_001305789.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 180,
"cds_start": 218,
"cds_end": null,
"cds_length": 543,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.218A>G",
"hgvs_p": "p.Gln73Arg",
"transcript": "NM_001318861.2",
"protein_id": "NP_001305790.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 180,
"cds_start": 218,
"cds_end": null,
"cds_length": 543,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Gln67Arg",
"transcript": "NM_001318862.2",
"protein_id": "NP_001305791.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 174,
"cds_start": 200,
"cds_end": null,
"cds_length": 525,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.200A>G",
"hgvs_p": "p.Gln67Arg",
"transcript": "NM_001318863.2",
"protein_id": "NP_001305792.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 174,
"cds_start": 200,
"cds_end": null,
"cds_length": 525,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "XM_011532647.3",
"protein_id": "XP_011530949.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 271,
"cds_start": 491,
"cds_end": null,
"cds_length": 816,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Gln170Arg",
"transcript": "XM_047443585.1",
"protein_id": "XP_047299541.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 200,
"cds_start": 509,
"cds_end": null,
"cds_length": 603,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "n.454A>G",
"hgvs_p": null,
"transcript": "ENST00000462685.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "n.510A>G",
"hgvs_p": null,
"transcript": "ENST00000489796.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "n.427A>G",
"hgvs_p": null,
"transcript": "NR_134894.2",
"protein_id": null,
"transcript_support_level": null,
"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": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "n.471A>G",
"hgvs_p": null,
"transcript": "NR_134897.2",
"protein_id": null,
"transcript_support_level": null,
"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": 890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.443+3744A>G",
"hgvs_p": null,
"transcript": "NM_080918.3",
"protein_id": "NP_550440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.443+3744A>G",
"hgvs_p": null,
"transcript": "ENST00000348222.3",
"protein_id": "ENSP00000306964.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DGUOK",
"gene_hgnc_id": 2858,
"hgvs_c": "c.425+3762A>G",
"hgvs_p": null,
"transcript": "NM_001318859.2",
"protein_id": "NP_001305788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.308-2715T>C",
"hgvs_p": null,
"transcript": "ENST00000453103.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.506-2715T>C",
"hgvs_p": null,
"transcript": "ENST00000667561.4",
"protein_id": null,
"transcript_support_level": null,
"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": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.476-2715T>C",
"hgvs_p": null,
"transcript": "ENST00000685756.3",
"protein_id": null,
"transcript_support_level": null,
"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": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.334-17143T>C",
"hgvs_p": null,
"transcript": "ENST00000804860.1",
"protein_id": null,
"transcript_support_level": null,
"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": 769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.334-22675T>C",
"hgvs_p": null,
"transcript": "ENST00000804861.1",
"protein_id": null,
"transcript_support_level": null,
"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": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.286-17143T>C",
"hgvs_p": null,
"transcript": "ENST00000804862.1",
"protein_id": null,
"transcript_support_level": null,
"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": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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{
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:7",
"phenotype_combined": "not specified|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4|not provided|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)|Mitochondrial DNA depletion syndrome 3 (hepatocerebral type);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;Portal hypertension, noncirrhotic, 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}