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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: 10-99879925-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=99879925&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 99879925,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_015221.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4434C>G",
"hgvs_p": "p.Ser1478Ser",
"transcript": "NM_015221.4",
"protein_id": "NP_056036.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4434,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4554,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": "ENST00000324109.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015221.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4434C>G",
"hgvs_p": "p.Ser1478Ser",
"transcript": "ENST00000324109.9",
"protein_id": "ENSP00000315659.4",
"transcript_support_level": 1,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4434,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4554,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": "NM_015221.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324109.9"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.2298C>G",
"hgvs_p": "p.Ser766Ser",
"transcript": "ENST00000543621.6",
"protein_id": "ENSP00000443657.2",
"transcript_support_level": 1,
"aa_start": 766,
"aa_end": null,
"aa_length": 865,
"cds_start": 2298,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543621.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4434C>G",
"hgvs_p": "p.Ser1478Ser",
"transcript": "NM_001441287.1",
"protein_id": "NP_001428216.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4434,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4636,
"cdna_end": null,
"cdna_length": 6510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441287.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4434C>G",
"hgvs_p": "p.Ser1478Ser",
"transcript": "ENST00000856964.1",
"protein_id": "ENSP00000527023.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4434,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4632,
"cdna_end": null,
"cdna_length": 6506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856964.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4434C>G",
"hgvs_p": "p.Ser1478Ser",
"transcript": "ENST00000928782.1",
"protein_id": "ENSP00000598841.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4434,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4720,
"cdna_end": null,
"cdna_length": 6592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928782.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4305C>G",
"hgvs_p": "p.Ser1435Ser",
"transcript": "NM_001441288.1",
"protein_id": "NP_001428217.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1534,
"cds_start": 4305,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 4425,
"cdna_end": null,
"cdna_length": 6299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441288.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4305C>G",
"hgvs_p": "p.Ser1435Ser",
"transcript": "ENST00000856965.1",
"protein_id": "ENSP00000527024.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1534,
"cds_start": 4305,
"cds_end": null,
"cds_length": 4605,
"cdna_start": 4391,
"cdna_end": null,
"cdna_length": 6264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856965.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.3330C>G",
"hgvs_p": "p.Ser1110Ser",
"transcript": "NM_001318326.2",
"protein_id": "NP_001305255.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3330,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 3474,
"cdna_end": null,
"cdna_length": 5348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318326.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.3330C>G",
"hgvs_p": "p.Ser1110Ser",
"transcript": "ENST00000636706.1",
"protein_id": "ENSP00000489875.1",
"transcript_support_level": 2,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3330,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 5437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636706.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.2172C>G",
"hgvs_p": "p.Ser724Ser",
"transcript": "NM_001318327.2",
"protein_id": "NP_001305256.2",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 823,
"cds_start": 2172,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318327.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.2169C>G",
"hgvs_p": "p.Ser723Ser",
"transcript": "NM_001441290.1",
"protein_id": "NP_001428219.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 822,
"cds_start": 2169,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441290.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.1944C>G",
"hgvs_p": "p.Ser648Ser",
"transcript": "NM_001441291.1",
"protein_id": "NP_001428220.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 747,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2589,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441291.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.1656C>G",
"hgvs_p": "p.Ser552Ser",
"transcript": "NM_001441292.1",
"protein_id": "NP_001428221.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 651,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441292.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.1242C>G",
"hgvs_p": "p.Ser414Ser",
"transcript": "NM_001441293.1",
"protein_id": "NP_001428222.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 513,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441293.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "c.4434C>G",
"hgvs_p": "p.Ser1478Ser",
"transcript": "XM_047424910.1",
"protein_id": "XP_047280866.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4434,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 7873,
"cdna_end": null,
"cdna_length": 9753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "n.4652C>G",
"hgvs_p": null,
"transcript": "NR_199816.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6526,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_199816.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"hgvs_c": "n.2356C>G",
"hgvs_p": null,
"transcript": "NR_199817.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_199817.1"
}
],
"gene_symbol": "DNMBP",
"gene_hgnc_id": 30373,
"dbsnp": "rs61757225",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.503,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_015221.4",
"gene_symbol": "DNMBP",
"hgnc_id": 30373,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4434C>G",
"hgvs_p": "p.Ser1478Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}