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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: 10-49627642-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=49627642&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CHAT",
"hgnc_id": 1912,
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_020549.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6",
"acmg_score": -1,
"allele_count_reference_population": 210,
"alphamissense_prediction": null,
"alphamissense_score": 0.1263,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "10",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Familial infantile myasthenia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7174475789070129,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 748,
"aa_ref": "R",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5296,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 2247,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020549.5",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337653.7",
"protein_coding": true,
"protein_id": "NP_065574.4",
"strand": true,
"transcript": "NM_020549.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 748,
"aa_ref": "R",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5296,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 2247,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000337653.7",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020549.5",
"protein_coding": true,
"protein_id": "ENSP00000337103.2",
"strand": true,
"transcript": "ENST00000337653.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 666,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 2001,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000395562.2",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.722G>A",
"hgvs_p": "p.Arg241His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378929.2",
"strand": true,
"transcript": "ENST00000395562.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1893,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000339797.5",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343486.1",
"strand": true,
"transcript": "ENST00000339797.5",
"transcript_support_level": 1
},
{
"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": 2528,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000466590.6",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "n.*699G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473443.1",
"strand": true,
"transcript": "ENST00000466590.6",
"transcript_support_level": 1
},
{
"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": 2528,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000466590.6",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "n.*699G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473443.1",
"strand": true,
"transcript": "ENST00000466590.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 666,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5366,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 2001,
"cds_start": 722,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001142933.2",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.722G>A",
"hgvs_p": "p.Arg241His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136405.2",
"strand": true,
"transcript": "NM_001142933.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5296,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1893,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001142929.2",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136401.2",
"strand": true,
"transcript": "NM_001142929.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5366,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1893,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001142934.2",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136406.2",
"strand": true,
"transcript": "NM_001142934.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4962,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1893,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020984.4",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066264.4",
"strand": true,
"transcript": "NM_020984.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5134,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1893,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_020985.4",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066265.4",
"strand": true,
"transcript": "NM_020985.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4962,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1893,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020986.4",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066266.4",
"strand": true,
"transcript": "NM_020986.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1893,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000351556.7",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345878.3",
"strand": true,
"transcript": "ENST00000351556.7",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1893,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000395559.6",
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378926.2",
"strand": true,
"transcript": "ENST00000395559.6",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200176236",
"effect": "missense_variant",
"frequency_reference_population": 0.00013010282,
"gene_hgnc_id": 1912,
"gene_symbol": "CHAT",
"gnomad_exomes_ac": 194,
"gnomad_exomes_af": 0.000132712,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 16,
"gnomad_genomes_af": 0.000105059,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Familial infantile myasthenia",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.748,
"pos": 49627642,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.741,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.09000000357627869,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.09,
"transcript": "NM_020549.5"
}
]
}