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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: 10-86685664-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86685664&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86685664,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001171610.2",
"consequences": [
{
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.689+3861C>T",
"hgvs_p": null,
"transcript": "NM_007078.3",
"protein_id": "NP_009009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361373.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007078.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.689+3861C>T",
"hgvs_p": null,
"transcript": "ENST00000361373.9",
"protein_id": "ENSP00000355296.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007078.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361373.9"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.322-14C>T",
"hgvs_p": null,
"transcript": "NM_001368067.1",
"protein_id": "NP_001354996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000263066.11",
"biotype": "protein_coding",
"feature": "NM_001368067.1"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.322-14C>T",
"hgvs_p": null,
"transcript": "ENST00000263066.11",
"protein_id": "ENSP00000263066.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001368067.1",
"biotype": "protein_coding",
"feature": "ENST00000263066.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289258",
"gene_hgnc_id": null,
"hgvs_c": "c.2198+3861C>T",
"hgvs_p": null,
"transcript": "ENST00000443292.2",
"protein_id": "ENSP00000393132.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": null,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443292.2"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.690-1405C>T",
"hgvs_p": null,
"transcript": "ENST00000372056.8",
"protein_id": "ENSP00000361126.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": null,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372056.8"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.689+3861C>T",
"hgvs_p": null,
"transcript": "ENST00000623007.3",
"protein_id": "ENSP00000485389.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623007.3"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.322-14C>T",
"hgvs_p": null,
"transcript": "ENST00000372066.8",
"protein_id": "ENSP00000361136.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372066.8"
},
{
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.690-1405C>T",
"hgvs_p": null,
"transcript": "ENST00000945680.1",
"protein_id": "ENSP00000615739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": null,
"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": "ENST00000945680.1"
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.689+3861C>T",
"hgvs_p": null,
"transcript": "ENST00000871464.1",
"protein_id": "ENSP00000541523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 774,
"cds_start": null,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871464.1"
},
{
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.689+3861C>T",
"hgvs_p": null,
"transcript": "ENST00000871462.1",
"protein_id": "ENSP00000541521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": null,
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"cds_length": 2232,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871462.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.690-1405C>T",
"hgvs_p": null,
"transcript": "NM_001171610.2",
"protein_id": "NP_001165081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
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"cds_length": 2199,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171610.2"
},
{
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.690-1405C>T",
"hgvs_p": null,
"transcript": "ENST00000623056.4",
"protein_id": "ENSP00000485500.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623056.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
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"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.690-1405C>T",
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"transcript": "ENST00000871441.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000871441.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.690-1405C>T",
"hgvs_p": null,
"transcript": "ENST00000871460.1",
"protein_id": "ENSP00000541519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871460.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.689+3861C>T",
"hgvs_p": null,
"transcript": "ENST00000871439.1",
"protein_id": "ENSP00000541498.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871439.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.689+3861C>T",
"hgvs_p": null,
"transcript": "ENST00000871467.1",
"protein_id": "ENSP00000541526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871467.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.689+3861C>T",
"hgvs_p": null,
"transcript": "ENST00000871456.1",
"protein_id": "ENSP00000541515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000871456.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.689+3861C>T",
"hgvs_p": null,
"transcript": "ENST00000871458.1",
"protein_id": "ENSP00000541517.1",
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"cdna_start": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.322-14C>T",
"hgvs_p": null,
"transcript": "ENST00000871454.1",
"protein_id": "ENSP00000541513.1",
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"aa_start": null,
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"feature": "ENST00000871454.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.322-14C>T",
"hgvs_p": null,
"transcript": "NM_001368066.1",
"protein_id": "NP_001354995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368066.1"
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.322-14C>T",
"hgvs_p": null,
"transcript": "ENST00000689740.1",
"protein_id": "ENSP00000510300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": null,
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"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689740.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.7,
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"phylop100way_prediction": "Benign",
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"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
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"BP6",
"BS1"
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"verdict": "Benign",
"transcript": "NM_001171610.2",
"gene_symbol": "LDB3",
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"effects": [
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"inheritance_mode": "AD,AR",
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{
"score": -5,
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "ENST00000443292.2",
"gene_symbol": "ENSG00000289258",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.2198+3861C>T",
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}
],
"clinvar_disease": " Dominant,Dilated Cardiomyopathy,Left ventricular noncompaction cardiomyopathy,Myofibrillar Myopathy,Myofibrillar myopathy 4,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:2",
"phenotype_combined": "not specified|Myofibrillar myopathy 4|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Myofibrillar Myopathy, Dominant|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}