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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: 15-89317446-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89317446&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM3_Strong",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POLG",
"hgnc_id": 9179,
"hgvs_c": "c.3573G>T",
"hgvs_p": "p.Lys1191Asn",
"inheritance_mode": "AR,AD",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_002693.3",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "FANCI",
"hgnc_id": 25568,
"hgvs_c": "c.*987C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "ENST00000940788.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM3_Strong,PP3",
"acmg_score": 7,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9988,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "15",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Mitochondrial disease,POLG-related disorder,Progressive sclerosing poliodystrophy,not provided",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:3 LP:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9893560409545898,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "K",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4462,
"cdna_start": 3884,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3573,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_002693.3",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "c.3573G>T",
"hgvs_p": "p.Lys1191Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268124.11",
"protein_coding": true,
"protein_id": "NP_002684.1",
"strand": false,
"transcript": "NM_002693.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "K",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4462,
"cdna_start": 3884,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3573,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000268124.11",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "c.3573G>T",
"hgvs_p": "p.Lys1191Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002693.3",
"protein_coding": true,
"protein_id": "ENSP00000268124.5",
"strand": false,
"transcript": "ENST00000268124.11",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "K",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4487,
"cdna_start": 3909,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3573,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000442287.6",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "c.3573G>T",
"hgvs_p": "p.Lys1191Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399851.2",
"strand": false,
"transcript": "ENST00000442287.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "K",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4450,
"cdna_start": 3872,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3573,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001126131.2",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "c.3573G>T",
"hgvs_p": "p.Lys1191Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119603.1",
"strand": false,
"transcript": "NM_001126131.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "K",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 4517,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3573,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000636937.2",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "c.3573G>T",
"hgvs_p": "p.Lys1191Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516154.1",
"strand": false,
"transcript": "ENST00000636937.2",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 909,
"aa_ref": "K",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 2730,
"cds_start": 2583,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000637264.1",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "c.2583G>T",
"hgvs_p": "p.Lys861Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489844.1",
"strand": false,
"transcript": "ENST00000637264.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1328,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5712,
"cdna_start": null,
"cds_end": null,
"cds_length": 3987,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000940788.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.*987C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610847.1",
"strand": true,
"transcript": "ENST00000940788.1",
"transcript_support_level": null
},
{
"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": 764,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000526671.1",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.383G>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": "ENST00000526671.1",
"transcript_support_level": 2
},
{
"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": 3843,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000530292.3",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.*165G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432885.2",
"strand": false,
"transcript": "ENST00000530292.3",
"transcript_support_level": 5
},
{
"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": 4668,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000631044.2",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.*2997G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000486730.1",
"strand": false,
"transcript": "ENST00000631044.2",
"transcript_support_level": 5
},
{
"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": 4388,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000635986.2",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.*643G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490653.2",
"strand": false,
"transcript": "ENST00000635986.2",
"transcript_support_level": 5
},
{
"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": 4151,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000636774.1",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.*2177G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489799.1",
"strand": false,
"transcript": "ENST00000636774.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 100,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000637042.1",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.97G>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": "ENST00000637042.1",
"transcript_support_level": 5
},
{
"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": 3022,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000637238.1",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.*1779G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490756.1",
"strand": false,
"transcript": "ENST00000637238.1",
"transcript_support_level": 5
},
{
"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": 3698,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000666746.1",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.*2215G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499495.1",
"strand": false,
"transcript": "ENST00000666746.1",
"transcript_support_level": null
},
{
"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": 5318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000672071.1",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.4775G>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": "ENST00000672071.1",
"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": 1930,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000672695.1",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.1352G>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": "ENST00000672695.1",
"transcript_support_level": null
},
{
"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": 4130,
"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": "ENST00000672923.2",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.3573G>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": "ENST00000672923.2",
"transcript_support_level": null
},
{
"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": 3843,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000530292.3",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.*165G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432885.2",
"strand": false,
"transcript": "ENST00000530292.3",
"transcript_support_level": 5
},
{
"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": 4668,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000631044.2",
"gene_hgnc_id": 9179,
"gene_symbol": "POLG",
"hgvs_c": "n.*2997G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000486730.1",
"strand": false,
"transcript": "ENST00000631044.2",
"transcript_support_level": 5
},
{
"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": 4388,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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