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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: 21-43063045-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43063045&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CBS",
"hgnc_id": 1550,
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_000071.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2023,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "21",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " CBS-RELATED, THROMBOTIC,Classic homocystinuria,HYPERHOMOCYSTEINEMIA,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.826602578163147,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1656,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000071.3",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398165.8",
"protein_coding": true,
"protein_id": "NP_000062.1",
"strand": false,
"transcript": "NM_000071.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1656,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000398165.8",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000071.3",
"protein_coding": true,
"protein_id": "ENSP00000381231.4",
"strand": false,
"transcript": "ENST00000398165.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1656,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000352178.9",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344460.5",
"strand": false,
"transcript": "ENST00000352178.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1656,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000359624.7",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352643.3",
"strand": false,
"transcript": "ENST00000359624.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1656,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000398158.5",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381225.1",
"strand": false,
"transcript": "ENST00000398158.5",
"transcript_support_level": 1
},
{
"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": 2656,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000461686.5",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "n.1173G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461686.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1923,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000886719.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556778.1",
"strand": false,
"transcript": "ENST00000886719.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1923,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939300.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609359.1",
"strand": false,
"transcript": "ENST00000939300.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 634,
"aa_ref": "A",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939297.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1111G>T",
"hgvs_p": "p.Ala371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609356.1",
"strand": false,
"transcript": "ENST00000939297.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 626,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1881,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939292.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609351.1",
"strand": false,
"transcript": "ENST00000939292.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 623,
"aa_ref": "A",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886706.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1078G>T",
"hgvs_p": "p.Ala360Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556765.1",
"strand": false,
"transcript": "ENST00000886706.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 623,
"aa_ref": "A",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000961049.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1078G>T",
"hgvs_p": "p.Ala360Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631108.1",
"strand": false,
"transcript": "ENST00000961049.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 578,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1737,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939295.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609354.1",
"strand": false,
"transcript": "ENST00000939295.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1728,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000961046.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631105.1",
"strand": false,
"transcript": "ENST00000961046.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1710,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886729.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556788.1",
"strand": false,
"transcript": "ENST00000886729.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 563,
"aa_ref": "A",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1692,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939289.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.898G>T",
"hgvs_p": "p.Ala300Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609348.1",
"strand": false,
"transcript": "ENST00000939289.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2582,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1656,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001178008.3",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171479.1",
"strand": false,
"transcript": "NM_001178008.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1656,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001178009.3",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171480.1",
"strand": false,
"transcript": "NM_001178009.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1656,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001320298.2",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307227.1",
"strand": false,
"transcript": "NM_001320298.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": 1909,
"cds_end": null,
"cds_length": 1656,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886703.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556762.1",
"strand": false,
"transcript": "ENST00000886703.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1656,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886704.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.862G>T",
"hgvs_p": "p.Ala288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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