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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: X-51895693-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=51895693&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 51895693,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001005333.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "NM_006986.4",
"protein_id": "NP_008917.3",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326587.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006986.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000326587.12",
"protein_id": "ENSP00000325333.8",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006986.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326587.12"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu",
"transcript": "ENST00000375695.2",
"protein_id": "ENSP00000364847.2",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 834,
"cds_start": 854,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375695.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu",
"transcript": "NM_001005333.2",
"protein_id": "NP_001005333.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 834,
"cds_start": 854,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005333.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu",
"transcript": "ENST00000898271.1",
"protein_id": "ENSP00000568330.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 834,
"cds_start": 854,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898271.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu",
"transcript": "ENST00000943445.1",
"protein_id": "ENSP00000613504.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 834,
"cds_start": 854,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943445.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000898286.1",
"protein_id": "ENSP00000568345.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 819,
"cds_start": 686,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898286.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000939079.1",
"protein_id": "ENSP00000609138.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 819,
"cds_start": 686,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939079.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000943446.1",
"protein_id": "ENSP00000613505.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 819,
"cds_start": 686,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943446.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu",
"transcript": "ENST00000939078.1",
"protein_id": "ENSP00000609137.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 813,
"cds_start": 854,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939078.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000898283.1",
"protein_id": "ENSP00000568342.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 787,
"cds_start": 686,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898283.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000898281.1",
"protein_id": "ENSP00000568340.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 786,
"cds_start": 686,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898281.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000943452.1",
"protein_id": "ENSP00000613511.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 781,
"cds_start": 686,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943452.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "NM_001005332.2",
"protein_id": "NP_001005332.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005332.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000375722.5",
"protein_id": "ENSP00000364874.1",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375722.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000375772.7",
"protein_id": "ENSP00000364927.3",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375772.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000898263.1",
"protein_id": "ENSP00000568322.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898263.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000898264.1",
"protein_id": "ENSP00000568323.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898264.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000898265.1",
"protein_id": "ENSP00000568324.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898265.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000898266.1",
"protein_id": "ENSP00000568325.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898266.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000898268.1",
"protein_id": "ENSP00000568327.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898268.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED1",
"gene_hgnc_id": 6813,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ser229Leu",
"transcript": "ENST00000898269.1",
"protein_id": "ENSP00000568328.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 778,
"cds_start": 686,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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],
"gene_symbol": "MAGED1",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11486142873764038,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.0901,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.59,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001005333.2",
"gene_symbol": "MAGED1",
"hgnc_id": 6813,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ser285Leu"
}
],
"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
}