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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: 20-3228968-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3228968&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3228968,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001174090.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "NM_001174089.2",
"protein_id": "NP_001167560.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 875,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000642402.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174089.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "ENST00000642402.1",
"protein_id": "ENSP00000493503.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 875,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001174089.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642402.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Ala704Thr",
"transcript": "ENST00000380056.7",
"protein_id": "ENSP00000369396.3",
"transcript_support_level": 1,
"aa_start": 704,
"aa_end": null,
"aa_length": 891,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380056.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Ala731Thr",
"transcript": "NM_001174090.2",
"protein_id": "NP_001167561.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 918,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174090.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Ala731Thr",
"transcript": "ENST00000380059.7",
"protein_id": "ENSP00000369399.3",
"transcript_support_level": 2,
"aa_start": 731,
"aa_end": null,
"aa_length": 918,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380059.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Ala704Thr",
"transcript": "NM_032034.4",
"protein_id": "NP_114423.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 891,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032034.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2077G>A",
"hgvs_p": "p.Ala693Thr",
"transcript": "NM_001400280.1",
"protein_id": "NP_001387209.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 880,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400280.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2056G>A",
"hgvs_p": "p.Ala686Thr",
"transcript": "ENST00000925552.1",
"protein_id": "ENSP00000595611.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 873,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925552.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2005G>A",
"hgvs_p": "p.Ala669Thr",
"transcript": "NM_001400277.1",
"protein_id": "NP_001387206.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 856,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400277.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2005G>A",
"hgvs_p": "p.Ala669Thr",
"transcript": "NM_001400278.1",
"protein_id": "NP_001387207.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 856,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400278.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2005G>A",
"hgvs_p": "p.Ala669Thr",
"transcript": "NM_001400279.1",
"protein_id": "NP_001387208.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 856,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400279.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1993G>A",
"hgvs_p": "p.Ala665Thr",
"transcript": "ENST00000644011.1",
"protein_id": "ENSP00000496214.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 852,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644011.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "ENST00000876657.1",
"protein_id": "ENSP00000546716.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 851,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876657.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Ala664Thr",
"transcript": "ENST00000925551.1",
"protein_id": "ENSP00000595610.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 851,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925551.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Ala663Thr",
"transcript": "ENST00000876658.1",
"protein_id": "ENSP00000546717.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 850,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876658.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "NM_001363745.2",
"protein_id": "NP_001350674.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 837,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363745.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Ala650Thr",
"transcript": "ENST00000647296.1",
"protein_id": "ENSP00000495050.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 837,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647296.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Ala648Thr",
"transcript": "ENST00000876659.1",
"protein_id": "ENSP00000546718.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 835,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876659.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Ala640Thr",
"transcript": "ENST00000925550.1",
"protein_id": "ENSP00000595609.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 827,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925550.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Ala645Thr",
"transcript": "ENST00000644692.1",
"protein_id": "ENSP00000493824.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 808,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644692.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2110G>A",
"hgvs_p": "p.Ala704Thr",
"transcript": "XM_047440540.1",
"protein_id": "XP_047296496.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 891,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440540.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Ala691Thr",
"transcript": "XM_017028093.2",
"protein_id": "XP_016883582.2",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 878,
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],
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.841,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
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"PP5"
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"verdict": "Uncertain_significance",
"transcript": "NM_001174090.2",
"gene_symbol": "SLC4A11",
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"effects": [
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"inheritance_mode": "AR,AD",
"hgvs_c": "c.2191G>A",
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],
"clinvar_disease": "Corneal dystrophy-perceptive deafness syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Corneal dystrophy-perceptive deafness syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}