← Back to variant description
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: 7-107919098-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107919098&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "DLD",
"hgnc_id": 2898,
"hgvs_c": "c.1463C>G",
"hgvs_p": "p.Pro488Arg",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_000108.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_score": 10,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.997,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9946048259735107,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "P",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000108.5",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1463C>G",
"hgvs_p": "p.Pro488Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000205402.10",
"protein_coding": true,
"protein_id": "NP_000099.2",
"strand": true,
"transcript": "NM_000108.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 509,
"aa_ref": "P",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1463,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000205402.10",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1463C>G",
"hgvs_p": "p.Pro488Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000108.5",
"protein_coding": true,
"protein_id": "ENSP00000205402.3",
"strand": true,
"transcript": "ENST00000205402.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 503,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1445,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000880448.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1445C>G",
"hgvs_p": "p.Pro482Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550507.1",
"strand": true,
"transcript": "ENST00000880448.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 501,
"aa_ref": "P",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1439,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000880447.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1439C>G",
"hgvs_p": "p.Pro480Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550506.1",
"strand": true,
"transcript": "ENST00000880447.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 497,
"aa_ref": "P",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1427,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000880450.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1427C>G",
"hgvs_p": "p.Pro476Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550509.1",
"strand": true,
"transcript": "ENST00000880450.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 487,
"aa_ref": "P",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1397,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000924909.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1397C>G",
"hgvs_p": "p.Pro466Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594968.1",
"strand": true,
"transcript": "ENST00000924909.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1394,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001289751.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1394C>G",
"hgvs_p": "p.Pro465Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276680.1",
"strand": true,
"transcript": "NM_001289751.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 1472,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1394,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000440410.5",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1394C>G",
"hgvs_p": "p.Pro465Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417016.1",
"strand": true,
"transcript": "ENST00000440410.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 480,
"aa_ref": "P",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1376,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000880449.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1376C>G",
"hgvs_p": "p.Pro459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550508.1",
"strand": true,
"transcript": "ENST00000880449.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1343,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000880452.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1343C>G",
"hgvs_p": "p.Pro448Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550511.1",
"strand": true,
"transcript": "ENST00000880452.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "P",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3469,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1319,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001289752.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1319C>G",
"hgvs_p": "p.Pro440Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276681.1",
"strand": true,
"transcript": "NM_001289752.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 461,
"aa_ref": "P",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1319,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000437604.6",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1319C>G",
"hgvs_p": "p.Pro440Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387542.2",
"strand": true,
"transcript": "ENST00000437604.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1292,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000924908.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1292C>G",
"hgvs_p": "p.Pro431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594967.1",
"strand": true,
"transcript": "ENST00000924908.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 433,
"aa_ref": "P",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1235,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000957323.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1235C>G",
"hgvs_p": "p.Pro412Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627382.1",
"strand": true,
"transcript": "ENST00000957323.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 427,
"aa_ref": "P",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1217,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000924910.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1217C>G",
"hgvs_p": "p.Pro406Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594969.1",
"strand": true,
"transcript": "ENST00000924910.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 410,
"aa_ref": "P",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1166,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001289750.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276679.1",
"strand": true,
"transcript": "NM_001289750.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880451.1",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "c.1375-96C>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550510.1",
"strand": true,
"transcript": "ENST00000880451.1",
"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": 1802,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000415325.5",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "n.*1137C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402593.1",
"strand": true,
"transcript": "ENST00000415325.5",
"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": 2041,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000417551.5",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "n.1463C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390667.1",
"strand": true,
"transcript": "ENST00000417551.5",
"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": 1802,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000415325.5",
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"hgvs_c": "n.*1137C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402593.1",
"strand": true,
"transcript": "ENST00000415325.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.456567228577209,
"dbsnp": "rs121964988",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 6.844102e-7,
"gene_hgnc_id": 2898,
"gene_symbol": "DLD",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.8441e-7,
"gnomad_exomes_homalt": 0,
"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": "Pathogenic",
"phylop100way_score": 7.568,
"pos": 107919098,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.989,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.5920000076293945,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_000108.5"
}
]
}