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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: 7-30609729-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=30609729&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 30609729,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000389266.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.880G>C",
"hgvs_p": "p.Gly294Arg",
"transcript": "NM_002047.4",
"protein_id": "NP_002038.2",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 739,
"cds_start": 880,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": "ENST00000389266.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.880G>C",
"hgvs_p": "p.Gly294Arg",
"transcript": "ENST00000389266.8",
"protein_id": "ENSP00000373918.3",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 739,
"cds_start": 880,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": "NM_002047.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.880G>C",
"hgvs_p": "p.Gly294Arg",
"transcript": "ENST00000675651.1",
"protein_id": "ENSP00000502513.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 745,
"cds_start": 880,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Gly260Arg",
"transcript": "ENST00000675810.1",
"protein_id": "ENSP00000502743.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 705,
"cds_start": 778,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Gly238Arg",
"transcript": "ENST00000675693.1",
"protein_id": "ENSP00000502174.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 683,
"cds_start": 712,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Gly227Arg",
"transcript": "ENST00000675051.1",
"protein_id": "ENSP00000502296.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 672,
"cds_start": 679,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.511G>C",
"hgvs_p": "p.Gly171Arg",
"transcript": "ENST00000674815.1",
"protein_id": "ENSP00000502799.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 616,
"cds_start": 511,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.511G>C",
"hgvs_p": "p.Gly171Arg",
"transcript": "ENST00000674851.1",
"protein_id": "ENSP00000502451.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 616,
"cds_start": 511,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.880G>C",
"hgvs_p": null,
"transcript": "ENST00000444666.6",
"protein_id": "ENSP00000415447.2",
"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": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*594G>C",
"hgvs_p": null,
"transcript": "ENST00000674616.1",
"protein_id": "ENSP00000502408.1",
"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": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.880G>C",
"hgvs_p": null,
"transcript": "ENST00000674643.1",
"protein_id": "ENSP00000501636.1",
"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": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*218G>C",
"hgvs_p": null,
"transcript": "ENST00000674737.1",
"protein_id": "ENSP00000502464.1",
"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": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.880G>C",
"hgvs_p": null,
"transcript": "ENST00000674807.1",
"protein_id": "ENSP00000502814.1",
"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": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*750G>C",
"hgvs_p": null,
"transcript": "ENST00000675529.1",
"protein_id": "ENSP00000501655.1",
"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": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.880G>C",
"hgvs_p": null,
"transcript": "ENST00000675859.1",
"protein_id": "ENSP00000502033.1",
"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": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*822G>C",
"hgvs_p": null,
"transcript": "ENST00000676088.1",
"protein_id": "ENSP00000501884.1",
"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": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.880G>C",
"hgvs_p": null,
"transcript": "ENST00000676140.1",
"protein_id": "ENSP00000502571.1",
"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": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*331G>C",
"hgvs_p": null,
"transcript": "ENST00000676164.1",
"protein_id": "ENSP00000501986.1",
"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": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*169G>C",
"hgvs_p": null,
"transcript": "ENST00000676210.1",
"protein_id": "ENSP00000502373.1",
"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": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*312G>C",
"hgvs_p": null,
"transcript": "ENST00000676259.1",
"protein_id": "ENSP00000501980.1",
"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": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.880G>C",
"hgvs_p": null,
"transcript": "ENST00000676403.1",
"protein_id": "ENSP00000502681.1",
"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": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*594G>C",
"hgvs_p": null,
"transcript": "ENST00000674616.1",
"protein_id": "ENSP00000502408.1",
"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": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
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"acmg_classification": "Pathogenic",
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{
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"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 2,Charcot-Marie-Tooth disease type 2D,not provided,not specified",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1 O:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2D|Charcot-Marie-Tooth disease|not provided|not specified|Charcot-Marie-Tooth disease type 2",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}