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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: 19-54360055-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54360055&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54360055,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002287.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.382G>T",
"hgvs_p": "p.Asp128Tyr",
"transcript": "NM_002287.6",
"protein_id": "NP_002278.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 287,
"cds_start": 382,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000391742.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002287.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.382G>T",
"hgvs_p": "p.Asp128Tyr",
"transcript": "ENST00000391742.7",
"protein_id": "ENSP00000375622.2",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 287,
"cds_start": 382,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002287.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391742.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.364+861G>T",
"hgvs_p": null,
"transcript": "ENST00000348231.8",
"protein_id": "ENSP00000301193.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348231.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.361+861G>T",
"hgvs_p": null,
"transcript": "ENST00000474878.5",
"protein_id": "ENSP00000418998.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474878.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.382G>T",
"hgvs_p": "p.Asp128Tyr",
"transcript": "ENST00000881593.1",
"protein_id": "ENSP00000551652.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 287,
"cds_start": 382,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881593.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.379G>T",
"hgvs_p": "p.Asp127Tyr",
"transcript": "NM_001289025.3",
"protein_id": "NP_001275954.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 286,
"cds_start": 379,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289025.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.379G>T",
"hgvs_p": "p.Asp127Tyr",
"transcript": "ENST00000434277.6",
"protein_id": "ENSP00000391003.2",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 286,
"cds_start": 379,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434277.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.361G>T",
"hgvs_p": "p.Asp121Tyr",
"transcript": "NM_001289026.3",
"protein_id": "NP_001275955.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 280,
"cds_start": 361,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289026.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Asp118Tyr",
"transcript": "ENST00000963904.1",
"protein_id": "ENSP00000633963.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 277,
"cds_start": 352,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963904.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.346G>T",
"hgvs_p": "p.Asp116Tyr",
"transcript": "ENST00000963902.1",
"protein_id": "ENSP00000633961.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 275,
"cds_start": 346,
"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": "ENST00000963902.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Asp115Tyr",
"transcript": "ENST00000963903.1",
"protein_id": "ENSP00000633962.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 274,
"cds_start": 343,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963903.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Asp110Tyr",
"transcript": "NM_001289027.3",
"protein_id": "NP_001275956.2",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 269,
"cds_start": 328,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289027.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Asp110Tyr",
"transcript": "ENST00000391743.7",
"protein_id": "ENSP00000375623.3",
"transcript_support_level": 2,
"aa_start": 110,
"aa_end": null,
"aa_length": 269,
"cds_start": 328,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391743.7"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.52G>T",
"hgvs_p": "p.Asp18Tyr",
"transcript": "ENST00000622064.1",
"protein_id": "ENSP00000483867.1",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 79,
"cds_start": 52,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622064.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.361G>T",
"hgvs_p": "p.Asp121Tyr",
"transcript": "XM_047438810.1",
"protein_id": "XP_047294766.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 280,
"cds_start": 361,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438810.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.361G>T",
"hgvs_p": "p.Asp121Tyr",
"transcript": "XM_047438811.1",
"protein_id": "XP_047294767.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 280,
"cds_start": 361,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438811.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Asp110Tyr",
"transcript": "XM_047438812.1",
"protein_id": "XP_047294768.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 269,
"cds_start": 328,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438812.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.382G>T",
"hgvs_p": "p.Asp128Tyr",
"transcript": "XM_017026803.3",
"protein_id": "XP_016882292.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 189,
"cds_start": 382,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026803.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.364+861G>T",
"hgvs_p": null,
"transcript": "NM_021706.5",
"protein_id": "NP_068352.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021706.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "c.361+861G>T",
"hgvs_p": null,
"transcript": "NM_001289023.3",
"protein_id": "NP_001275952.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289023.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "n.288G>T",
"hgvs_p": null,
"transcript": "ENST00000391741.6",
"protein_id": "ENSP00000375621.2",
"transcript_support_level": 5,
"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": "ENST00000391741.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAIR1",
"gene_hgnc_id": 6477,
"hgvs_c": "n.382G>T",
"hgvs_p": null,
"transcript": "ENST00000418556.5",
"protein_id": "ENSP00000412796.1",
"transcript_support_level": 3,
"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": "ENST00000418556.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.35,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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{
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "NM_002287.6",
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"effects": [
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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
}