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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: 3-49417665-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49417665&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AMT",
"hgnc_id": 473,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Gly363Ser",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_000481.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000283189",
"hgnc_id": null,
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Gly442Ser",
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000636166.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5515,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"chr": "3",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Glycine encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9122820496559143,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 403,
"aa_ref": "G",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000481.4",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Gly363Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000273588.9",
"protein_coding": true,
"protein_id": "NP_000472.2",
"strand": false,
"transcript": "NM_000481.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 403,
"aa_ref": "G",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000273588.9",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Gly363Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000481.4",
"protein_coding": true,
"protein_id": "ENSP00000273588.3",
"strand": false,
"transcript": "ENST00000273588.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 482,
"aa_ref": "G",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000636166.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283189",
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Gly442Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490106.1",
"strand": false,
"transcript": "ENST00000636166.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 386,
"aa_ref": "G",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1831,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1161,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000395338.7",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Gly363Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378747.2",
"strand": false,
"transcript": "ENST00000395338.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 386,
"aa_ref": "G",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1161,
"cds_start": 1087,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001164712.2",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Gly363Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158184.1",
"strand": false,
"transcript": "NM_001164712.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 376,
"aa_ref": "G",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1131,
"cds_start": 1006,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000638063.1",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Gly336Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489760.1",
"strand": false,
"transcript": "ENST00000638063.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 359,
"aa_ref": "G",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1080,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001164710.2",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Gly319Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158182.1",
"strand": false,
"transcript": "NM_001164710.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 359,
"aa_ref": "G",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1860,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1080,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000458307.6",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Gly319Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415619.2",
"strand": false,
"transcript": "ENST00000458307.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 359,
"aa_ref": "G",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1080,
"cds_start": 1006,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000635808.1",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Gly336Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489620.1",
"strand": false,
"transcript": "ENST00000635808.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 355,
"aa_ref": "G",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1068,
"cds_start": 943,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000538581.6",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Gly315Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443200.2",
"strand": false,
"transcript": "ENST00000538581.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "G",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1056,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636865.1",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490601.1",
"strand": false,
"transcript": "ENST00000636865.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "G",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1056,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
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"feature": "ENST00000637682.1",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489856.1",
"strand": false,
"transcript": "ENST00000637682.1",
"transcript_support_level": 5
},
{
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"aa_length": 347,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1044,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001164711.2",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Gly307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158183.1",
"strand": false,
"transcript": "NM_001164711.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 347,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1044,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000636522.1",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Gly307Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489758.1",
"strand": false,
"transcript": "ENST00000636522.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 338,
"aa_ref": "G",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1646,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1017,
"cds_start": 943,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000427987.6",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Gly315Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403821.2",
"strand": false,
"transcript": "ENST00000427987.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 321,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 898,
"cds_end": null,
"cds_length": 966,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000637455.1",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489628.1",
"strand": false,
"transcript": "ENST00000637455.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 257,
"aa_ref": "G",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": 659,
"cds_end": null,
"cds_length": 774,
"cds_start": 649,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000636199.1",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Gly217Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490871.1",
"strand": false,
"transcript": "ENST00000636199.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 242,
"aa_ref": "G",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 645,
"cds_end": null,
"cds_length": 729,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000636597.1",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Gly202Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490251.1",
"strand": false,
"transcript": "ENST00000636597.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 145,
"aa_ref": "G",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 804,
"cdna_start": 266,
"cds_end": null,
"cds_length": 438,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636188.1",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490324.1",
"strand": false,
"transcript": "ENST00000636188.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 977,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000399379.7",
"gene_hgnc_id": 473,
"gene_symbol": "AMT",
"hgvs_c": "n.*459G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399943.2",
"strand": false,
"transcript": "ENST00000399379.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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