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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: 2-26204087-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26204087&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26204087,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_000182.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "NM_000182.5",
"protein_id": "NP_000173.2",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 763,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380649.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000182.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000380649.8",
"protein_id": "ENSP00000370023.3",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 763,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000182.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380649.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "ENST00000942149.1",
"protein_id": "ENSP00000612208.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 818,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942149.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404*",
"transcript": "ENST00000942146.1",
"protein_id": "ENSP00000612205.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 795,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942146.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000492433.2",
"protein_id": "ENSP00000438039.2",
"transcript_support_level": 2,
"aa_start": 399,
"aa_end": null,
"aa_length": 792,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492433.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000859324.1",
"protein_id": "ENSP00000529383.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 790,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859324.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397*",
"transcript": "ENST00000942150.1",
"protein_id": "ENSP00000612209.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 788,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942150.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Arg416*",
"transcript": "ENST00000859333.1",
"protein_id": "ENSP00000529392.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 780,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859333.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000942153.1",
"protein_id": "ENSP00000612212.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 775,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942153.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000942145.1",
"protein_id": "ENSP00000612204.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 769,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942145.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404*",
"transcript": "ENST00000859325.1",
"protein_id": "ENSP00000529384.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 768,
"cds_start": 1210,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859325.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000942141.1",
"protein_id": "ENSP00000612200.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 763,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942141.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000942144.1",
"protein_id": "ENSP00000612203.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 763,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942144.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000925541.1",
"protein_id": "ENSP00000595600.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 761,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925541.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Arg397*",
"transcript": "ENST00000942142.1",
"protein_id": "ENSP00000612201.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 761,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942142.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1186C>T",
"hgvs_p": "p.Arg396*",
"transcript": "ENST00000859327.1",
"protein_id": "ENSP00000529386.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 760,
"cds_start": 1186,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859327.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1186C>T",
"hgvs_p": "p.Arg396*",
"transcript": "ENST00000942147.1",
"protein_id": "ENSP00000612206.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 760,
"cds_start": 1186,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942147.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000859332.1",
"protein_id": "ENSP00000529391.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 751,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859332.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1153C>T",
"hgvs_p": "p.Arg385*",
"transcript": "ENST00000942143.1",
"protein_id": "ENSP00000612202.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 749,
"cds_start": 1153,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942143.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "ENST00000859331.1",
"protein_id": "ENSP00000529390.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 740,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859331.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364*",
"transcript": "ENST00000645274.1",
"protein_id": "ENSP00000493996.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 728,
"cds_start": 1090,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645274.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359*",
"transcript": "ENST00000859326.1",
"protein_id": "ENSP00000529385.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 723,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859326.1"
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"acmg_by_gene": [
{
"score": 18,
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"pathogenic_score": 18,
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"PM2",
"PP5_Very_Strong"
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"verdict": "Pathogenic",
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"inheritance_mode": "AR",
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{
"score": 14,
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}
],
"clinvar_disease": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Mitochondrial trifunctional protein deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "not provided|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}