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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: 10-71356184-TG-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=71356184&ref=TG&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 71356184,
"ref": "TG",
"alt": "CA",
"effect": "missense_variant",
"transcript": "ENST00000373189.6",
"consequences": [
{
"aa_ref": "TV",
"aa_alt": "TI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "c.714_715delTGinsCA",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_018344.6",
"protein_id": "NP_060814.4",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 475,
"cds_start": 714,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": "ENST00000373189.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TV",
"aa_alt": "TI",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "c.714_715delTGinsCA",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000373189.6",
"protein_id": "ENSP00000362285.5",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 475,
"cds_start": 714,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": "NM_018344.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TV",
"aa_alt": "TI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "c.480_481delTGinsCA",
"hgvs_p": "p.Val161Ile",
"transcript": "NM_001363518.2",
"protein_id": "NP_001350447.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 397,
"cds_start": 480,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TV",
"aa_alt": "TI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "c.480_481delTGinsCA",
"hgvs_p": "p.Val161Ile",
"transcript": "ENST00000479577.2",
"protein_id": "ENSP00000493995.1",
"transcript_support_level": 2,
"aa_start": 160,
"aa_end": null,
"aa_length": 397,
"cds_start": 480,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TV",
"aa_alt": "TI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "c.714_715delTGinsCA",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_001174098.2",
"protein_id": "NP_001167569.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 258,
"cds_start": 714,
"cds_end": null,
"cds_length": 777,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TV",
"aa_alt": "TI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "c.714_715delTGinsCA",
"hgvs_p": "p.Val239Ile",
"transcript": "XM_047425424.1",
"protein_id": "XP_047281380.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 309,
"cds_start": 714,
"cds_end": null,
"cds_length": 930,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TV",
"aa_alt": "TI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "c.714_715delTGinsCA",
"hgvs_p": "p.Val239Ile",
"transcript": "XM_047425425.1",
"protein_id": "XP_047281381.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 287,
"cds_start": 714,
"cds_end": null,
"cds_length": 864,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2599,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.205_206delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000469204.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 836,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*286_*287delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000642198.1",
"protein_id": "ENSP00000494827.1",
"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": 2594,
"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": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*35_*36delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000642772.1",
"protein_id": "ENSP00000495041.1",
"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": 2203,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*35_*36delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000643042.1",
"protein_id": "ENSP00000496674.1",
"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": 2245,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*297_*298delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000643619.1",
"protein_id": "ENSP00000494378.1",
"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": 2496,
"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": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*40_*41delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000643752.1",
"protein_id": "ENSP00000495000.1",
"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": 2392,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*35_*36delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000644088.1",
"protein_id": "ENSP00000494066.1",
"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": 1927,
"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": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*40_*41delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000644591.1",
"protein_id": "ENSP00000496664.1",
"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": 2136,
"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": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*40_*41delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000644895.1",
"protein_id": "ENSP00000493872.1",
"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": 2496,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*286_*287delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000645345.1",
"protein_id": "ENSP00000495859.1",
"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": 2365,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*297_*298delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000647524.1",
"protein_id": "ENSP00000495077.1",
"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": 2451,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.2190_2191delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000697843.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.682_683delTGinsCA",
"hgvs_p": null,
"transcript": "NR_033413.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2173,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.455_456delTGinsCA",
"hgvs_p": null,
"transcript": "NR_033414.2",
"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": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*286_*287delTGinsCA",
"hgvs_p": null,
"transcript": "ENST00000642198.1",
"protein_id": "ENSP00000494827.1",
"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": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC29A3",
"gene_hgnc_id": 23096,
"hgvs_c": "n.*35_*36delTGinsCA",
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}
],
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"hom_count_reference_population": 0,
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"phylop100way_score": 0.16,
"phylop100way_prediction": "Benign",
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"verdict": "Likely_benign",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Val239Ile"
}
],
"clinvar_disease": "H syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:3 O:1",
"phenotype_combined": "H syndrome|not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}