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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: 10-99880039-GGA-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=99880039&ref=GGA&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DNMBP",
"hgnc_id": 30373,
"hgvs_c": "c.4318_4320delTCCinsAGT",
"hgvs_p": "p.1441",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015221.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1577,
"aa_ref": "S",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6428,
"cdna_start": 4440,
"cds_end": null,
"cds_length": 4734,
"cds_start": 4318,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015221.4",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.4318_4320delTCCinsAGT",
"hgvs_p": "p.1441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324109.9",
"protein_coding": true,
"protein_id": "NP_056036.1",
"strand": false,
"transcript": "NM_015221.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1577,
"aa_ref": "S",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6428,
"cdna_start": 4440,
"cds_end": null,
"cds_length": 4734,
"cds_start": 4318,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000324109.9",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.4318_4320delTCCinsAGT",
"hgvs_p": "p.1441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015221.4",
"protein_coding": true,
"protein_id": "ENSP00000315659.4",
"strand": false,
"transcript": "ENST00000324109.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 865,
"aa_ref": "S",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4178,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 2598,
"cds_start": 2182,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543621.6",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.2182_2184delTCCinsAGT",
"hgvs_p": "p.729",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443657.2",
"strand": false,
"transcript": "ENST00000543621.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1577,
"aa_ref": "S",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6510,
"cdna_start": 4522,
"cds_end": null,
"cds_length": 4734,
"cds_start": 4318,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441287.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.4318_4320delTCCinsAGT",
"hgvs_p": "p.1441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428216.1",
"strand": false,
"transcript": "NM_001441287.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1577,
"aa_ref": "S",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6506,
"cdna_start": 4518,
"cds_end": null,
"cds_length": 4734,
"cds_start": 4318,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856964.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.4318_4320delTCCinsAGT",
"hgvs_p": "p.1441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527023.1",
"strand": false,
"transcript": "ENST00000856964.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1577,
"aa_ref": "S",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6592,
"cdna_start": 4606,
"cds_end": null,
"cds_length": 4734,
"cds_start": 4318,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928782.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.4318_4320delTCCinsAGT",
"hgvs_p": "p.1441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598841.1",
"strand": false,
"transcript": "ENST00000928782.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "S",
"aa_start": 1397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6299,
"cdna_start": 4311,
"cds_end": null,
"cds_length": 4605,
"cds_start": 4189,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441288.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.4189_4191delTCCinsAGT",
"hgvs_p": "p.1398",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428217.1",
"strand": false,
"transcript": "NM_001441288.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "S",
"aa_start": 1397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6264,
"cdna_start": 4277,
"cds_end": null,
"cds_length": 4605,
"cds_start": 4189,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856965.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.4189_4191delTCCinsAGT",
"hgvs_p": "p.1398",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527024.1",
"strand": false,
"transcript": "ENST00000856965.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "S",
"aa_start": 1072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5348,
"cdna_start": 3360,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3214,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318326.2",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.3214_3216delTCCinsAGT",
"hgvs_p": "p.1073",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305255.1",
"strand": false,
"transcript": "NM_001318326.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "S",
"aa_start": 1072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5437,
"cdna_start": 3449,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3214,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636706.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.3214_3216delTCCinsAGT",
"hgvs_p": "p.1073",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489875.1",
"strand": false,
"transcript": "ENST00000636706.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": 2144,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2056,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318327.2",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.2056_2058delTCCinsAGT",
"hgvs_p": "p.687",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305256.2",
"strand": false,
"transcript": "NM_001318327.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 822,
"aa_ref": "S",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 2469,
"cds_start": 2053,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441290.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.2053_2055delTCCinsAGT",
"hgvs_p": "p.686",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428219.1",
"strand": false,
"transcript": "NM_001441290.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 747,
"aa_ref": "S",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1828,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441291.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.1828_1830delTCCinsAGT",
"hgvs_p": "p.611",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428220.1",
"strand": false,
"transcript": "NM_001441291.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 651,
"aa_ref": "S",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4032,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1540,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441292.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.1540_1542delTCCinsAGT",
"hgvs_p": "p.515",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428221.1",
"strand": false,
"transcript": "NM_001441292.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 513,
"aa_ref": "S",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1126,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441293.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.1126_1128delTCCinsAGT",
"hgvs_p": "p.377",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428222.1",
"strand": false,
"transcript": "NM_001441293.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1577,
"aa_ref": "S",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9753,
"cdna_start": 7759,
"cds_end": null,
"cds_length": 4734,
"cds_start": 4318,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047424910.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "c.4318_4320delTCCinsAGT",
"hgvs_p": "p.1441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280866.1",
"strand": false,
"transcript": "XM_047424910.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6526,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NR_199816.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "n.4536_4538delTCCinsAGT",
"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": "NR_199816.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4230,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_199817.1",
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"hgvs_c": "n.2240_2242delTCCinsAGT",
"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": "NR_199817.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 30373,
"gene_symbol": "DNMBP",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.67,
"pos": 99880039,
"ref": "GGA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_015221.4"
}
]
}