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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: 5-60918267-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=60918267&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 60918267,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000082.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu",
"transcript": "NM_000082.4",
"protein_id": "NP_000073.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 396,
"cds_start": 397,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 9414,
"mane_select": "ENST00000676185.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000082.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu",
"transcript": "ENST00000676185.1",
"protein_id": "ENSP00000501614.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 396,
"cds_start": 397,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 9414,
"mane_select": "NM_000082.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676185.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu",
"transcript": "ENST00000265038.10",
"protein_id": "ENSP00000265038.6",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 415,
"cds_start": 397,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265038.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*195C>G",
"hgvs_p": null,
"transcript": "ENST00000497892.6",
"protein_id": "ENSP00000501805.1",
"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": 969,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497892.6"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*195C>G",
"hgvs_p": null,
"transcript": "ENST00000497892.6",
"protein_id": "ENSP00000501805.1",
"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": 969,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497892.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu",
"transcript": "ENST00000891473.1",
"protein_id": "ENSP00000561532.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 400,
"cds_start": 397,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891473.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu",
"transcript": "ENST00000891472.1",
"protein_id": "ENSP00000561531.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 369,
"cds_start": 397,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891472.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Gln75Glu",
"transcript": "NM_001007233.3",
"protein_id": "NP_001007234.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 338,
"cds_start": 223,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 9632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007233.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.223C>G",
"hgvs_p": "p.Gln75Glu",
"transcript": "ENST00000675042.2",
"protein_id": "ENSP00000502082.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 338,
"cds_start": 223,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675042.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu",
"transcript": "ENST00000682217.1",
"protein_id": "ENSP00000507570.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 330,
"cds_start": 397,
"cds_end": null,
"cds_length": 993,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682217.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Gln67Glu",
"transcript": "ENST00000683052.1",
"protein_id": "ENSP00000507072.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 330,
"cds_start": 199,
"cds_end": null,
"cds_length": 993,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683052.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu",
"transcript": "ENST00000439176.6",
"protein_id": "ENSP00000408344.2",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 307,
"cds_start": 397,
"cds_end": null,
"cds_length": 924,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439176.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu",
"transcript": "ENST00000940243.1",
"protein_id": "ENSP00000610302.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 303,
"cds_start": 397,
"cds_end": null,
"cds_length": 912,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940243.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.20C>G",
"hgvs_p": "p.Thr7Arg",
"transcript": "NM_001290285.2",
"protein_id": "NP_001277214.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 243,
"cds_start": 20,
"cds_end": null,
"cds_length": 732,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 9332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290285.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu",
"transcript": "NM_001007234.3",
"protein_id": "NP_001007235.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 205,
"cds_start": 397,
"cds_end": null,
"cds_length": 618,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007234.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu",
"transcript": "ENST00000675229.1",
"protein_id": "ENSP00000502154.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 205,
"cds_start": 397,
"cds_end": null,
"cds_length": 618,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*441C>G",
"hgvs_p": null,
"transcript": "ENST00000381118.7",
"protein_id": "ENSP00000370510.3",
"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": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000381118.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.448C>G",
"hgvs_p": null,
"transcript": "ENST00000477893.1",
"protein_id": null,
"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": 752,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477893.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.224C>G",
"hgvs_p": null,
"transcript": "ENST00000484330.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 471,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484330.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.170C>G",
"hgvs_p": null,
"transcript": "ENST00000495985.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495985.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*289C>G",
"hgvs_p": null,
"transcript": "ENST00000643034.1",
"protein_id": "ENSP00000496080.1",
"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": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000082.4",
"gene_symbol": "ERCC8",
"hgnc_id": 3439,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.397C>G",
"hgvs_p": "p.Gln133Glu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000457499.2",
"gene_symbol": "ERCC8-AS1",
"hgnc_id": 40220,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.145-28G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}