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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: 19-8302540-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8302540&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8302540,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016579.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "NM_016579.4",
"protein_id": "NP_057663.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 282,
"cds_start": 772,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301458.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016579.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys",
"transcript": "ENST00000301458.10",
"protein_id": "ENSP00000301458.4",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 282,
"cds_start": 772,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016579.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301458.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "n.*1060C>T",
"hgvs_p": null,
"transcript": "ENST00000596002.5",
"protein_id": "ENSP00000471773.1",
"transcript_support_level": 1,
"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": "ENST00000596002.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "n.*1060C>T",
"hgvs_p": null,
"transcript": "ENST00000596002.5",
"protein_id": "ENSP00000471773.1",
"transcript_support_level": 1,
"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": "ENST00000596002.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Arg362Cys",
"transcript": "ENST00000963189.1",
"protein_id": "ENSP00000633248.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 386,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963189.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Cys",
"transcript": "ENST00000932616.1",
"protein_id": "ENSP00000602675.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 297,
"cds_start": 817,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932616.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Arg266Cys",
"transcript": "ENST00000874639.1",
"protein_id": "ENSP00000544698.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 290,
"cds_start": 796,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874639.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Cys",
"transcript": "ENST00000932619.1",
"protein_id": "ENSP00000602678.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 251,
"cds_start": 679,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932619.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "NM_001165895.2",
"protein_id": "NP_001159367.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 240,
"cds_start": 646,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165895.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"transcript": "ENST00000537716.6",
"protein_id": "ENSP00000437697.1",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 240,
"cds_start": 646,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537716.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Cys",
"transcript": "ENST00000874640.1",
"protein_id": "ENSP00000544699.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 238,
"cds_start": 640,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874640.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Arg213Cys",
"transcript": "ENST00000874638.1",
"protein_id": "ENSP00000544697.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 237,
"cds_start": 637,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874638.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"transcript": "ENST00000932617.1",
"protein_id": "ENSP00000602676.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 204,
"cds_start": 538,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932617.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000932621.1",
"protein_id": "ENSP00000602680.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 196,
"cds_start": 514,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932621.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Cys",
"transcript": "ENST00000932620.1",
"protein_id": "ENSP00000602679.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 195,
"cds_start": 511,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932620.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138Cys",
"transcript": "ENST00000874637.1",
"protein_id": "ENSP00000544696.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 162,
"cds_start": 412,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874637.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "ENST00000932618.1",
"protein_id": "ENSP00000602677.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 94,
"cds_start": 208,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "n.*372C>T",
"hgvs_p": null,
"transcript": "ENST00000599573.1",
"protein_id": "ENSP00000471551.1",
"transcript_support_level": 2,
"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": "ENST00000599573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "n.*372C>T",
"hgvs_p": null,
"transcript": "ENST00000599573.1",
"protein_id": "ENSP00000471551.1",
"transcript_support_level": 2,
"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": "ENST00000599573.1"
}
],
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"dbsnp": "rs146190802",
"frequency_reference_population": 0.009123897,
"hom_count_reference_population": 1302,
"allele_count_reference_population": 14724,
"gnomad_exomes_af": 0.00948816,
"gnomad_genomes_af": 0.00562786,
"gnomad_exomes_ac": 13867,
"gnomad_genomes_ac": 857,
"gnomad_exomes_homalt": 1206,
"gnomad_genomes_homalt": 96,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0018918812274932861,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.171,
"revel_prediction": "Benign",
"alphamissense_score": 0.2688,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.29,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_016579.4",
"gene_symbol": "CD320",
"hgnc_id": 16692,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Arg258Cys"
}
],
"clinvar_disease": "Methylmalonic acidemia due to transcobalamin receptor defect,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|Methylmalonic acidemia due to transcobalamin receptor defect|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}