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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: 14-39132067-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=39132067&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 39132067,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_003616.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.710T>A",
"hgvs_p": "p.Val237Glu",
"transcript": "NM_003616.3",
"protein_id": "NP_003607.2",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 269,
"cds_start": 710,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308317.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003616.3"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.710T>A",
"hgvs_p": "p.Val237Glu",
"transcript": "ENST00000308317.12",
"protein_id": "ENSP00000308533.7",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 269,
"cds_start": 710,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003616.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308317.12"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.665T>A",
"hgvs_p": "p.Val222Glu",
"transcript": "ENST00000250379.13",
"protein_id": "ENSP00000250379.9",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 254,
"cds_start": 665,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250379.13"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.710T>A",
"hgvs_p": "p.Val237Glu",
"transcript": "ENST00000396249.7",
"protein_id": "ENSP00000379548.3",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 239,
"cds_start": 710,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396249.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "n.*528T>A",
"hgvs_p": null,
"transcript": "ENST00000412033.7",
"protein_id": "ENSP00000416827.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412033.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "n.*411T>A",
"hgvs_p": null,
"transcript": "ENST00000525153.6",
"protein_id": "ENSP00000436854.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525153.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "n.*528T>A",
"hgvs_p": null,
"transcript": "ENST00000412033.7",
"protein_id": "ENSP00000416827.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412033.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "n.*411T>A",
"hgvs_p": null,
"transcript": "ENST00000525153.6",
"protein_id": "ENSP00000436854.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525153.6"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.728T>A",
"hgvs_p": "p.Val243Glu",
"transcript": "ENST00000873083.1",
"protein_id": "ENSP00000543142.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 275,
"cds_start": 728,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873083.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.698T>A",
"hgvs_p": "p.Val233Glu",
"transcript": "ENST00000967543.1",
"protein_id": "ENSP00000637602.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 265,
"cds_start": 698,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967543.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.665T>A",
"hgvs_p": "p.Val222Glu",
"transcript": "NM_001009182.2",
"protein_id": "NP_001009182.2",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 254,
"cds_start": 665,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009182.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.656T>A",
"hgvs_p": "p.Val219Glu",
"transcript": "ENST00000917044.1",
"protein_id": "ENSP00000587103.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 251,
"cds_start": 656,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917044.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.650T>A",
"hgvs_p": "p.Val217Glu",
"transcript": "ENST00000873082.1",
"protein_id": "ENSP00000543141.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 249,
"cds_start": 650,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873082.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.710T>A",
"hgvs_p": "p.Val237Glu",
"transcript": "NM_001009183.2",
"protein_id": "NP_001009183.2",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 239,
"cds_start": 710,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009183.2"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.596T>A",
"hgvs_p": "p.Val199Glu",
"transcript": "ENST00000917043.1",
"protein_id": "ENSP00000587102.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 231,
"cds_start": 596,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917043.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.596T>A",
"hgvs_p": "p.Val199Glu",
"transcript": "ENST00000967542.1",
"protein_id": "ENSP00000637601.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 231,
"cds_start": 596,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967542.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.587T>A",
"hgvs_p": "p.Val196Glu",
"transcript": "ENST00000917046.1",
"protein_id": "ENSP00000587105.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 228,
"cds_start": 587,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917046.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.560T>A",
"hgvs_p": "p.Val187Glu",
"transcript": "ENST00000917049.1",
"protein_id": "ENSP00000587108.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 219,
"cds_start": 560,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917049.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.551T>A",
"hgvs_p": "p.Val184Glu",
"transcript": "ENST00000917045.1",
"protein_id": "ENSP00000587104.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 216,
"cds_start": 551,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917045.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.545T>A",
"hgvs_p": "p.Val182Glu",
"transcript": "ENST00000873081.1",
"protein_id": "ENSP00000543140.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 214,
"cds_start": 545,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873081.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
"hgvs_c": "c.641T>A",
"hgvs_p": "p.Val214Glu",
"transcript": "ENST00000534684.7",
"protein_id": "ENSP00000436065.2",
"transcript_support_level": 3,
"aa_start": 214,
"aa_end": null,
"aa_length": 213,
"cds_start": 641,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534684.7"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN2",
"gene_hgnc_id": 10884,
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{
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{
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{
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 4,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23965072631835938,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.132,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0265950789769877,
"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003616.3",
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"effects": [
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"splice_region_variant"
],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}