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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: 19-55346619-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55346619&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "KMT5C",
"hgnc_id": 28405,
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_032701.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032701.4",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255613.8",
"protein_coding": true,
"protein_id": "NP_116090.2",
"strand": true,
"transcript": "NM_032701.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000255613.8",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032701.4",
"protein_coding": true,
"protein_id": "ENSP00000255613.3",
"strand": true,
"transcript": "ENST00000255613.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1044,
"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000630497.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.482_483delGCinsAT",
"hgvs_p": "p.Ser161Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486397.1",
"strand": true,
"transcript": "ENST00000630497.1",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 495,
"aa_ref": "S",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1488,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943506.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.926_927delGCinsAT",
"hgvs_p": "p.Ser309Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613565.1",
"strand": true,
"transcript": "ENST00000943506.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438948.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425877.1",
"strand": true,
"transcript": "NM_001438948.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885238.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555297.1",
"strand": true,
"transcript": "ENST00000885238.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885240.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555299.1",
"strand": true,
"transcript": "ENST00000885240.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885241.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555300.1",
"strand": true,
"transcript": "ENST00000885241.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885242.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555301.1",
"strand": true,
"transcript": "ENST00000885242.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918566.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588625.1",
"strand": true,
"transcript": "ENST00000918566.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918567.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588626.1",
"strand": true,
"transcript": "ENST00000918567.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918570.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588629.1",
"strand": true,
"transcript": "ENST00000918570.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1389,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918571.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.827_828delGCinsAT",
"hgvs_p": "p.Ser276Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588630.1",
"strand": true,
"transcript": "ENST00000918571.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 434,
"aa_ref": "S",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2204,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1305,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885239.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.743_744delGCinsAT",
"hgvs_p": "p.Ser248Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555298.1",
"strand": true,
"transcript": "ENST00000885239.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 370,
"aa_ref": "S",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1113,
"cds_start": 551,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918569.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.551_552delGCinsAT",
"hgvs_p": "p.Ser184Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588628.1",
"strand": true,
"transcript": "ENST00000918569.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 352,
"aa_ref": "S",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1059,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918568.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.497_498delGCinsAT",
"hgvs_p": "p.Ser166Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588627.1",
"strand": true,
"transcript": "ENST00000918568.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1044,
"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438949.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.482_483delGCinsAT",
"hgvs_p": "p.Ser161Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425878.1",
"strand": true,
"transcript": "NM_001438949.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1044,
"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006723442.4",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.482_483delGCinsAT",
"hgvs_p": "p.Ser161Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723505.1",
"strand": true,
"transcript": "XM_006723442.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 298,
"aa_ref": "S",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 897,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439556.1",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "c.335_336delGCinsAT",
"hgvs_p": "p.Ser112Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295512.1",
"strand": true,
"transcript": "XM_047439556.1",
"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": 2077,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000445196.5",
"gene_hgnc_id": 28405,
"gene_symbol": "KMT5C",
"hgvs_c": "n.*367_*368delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397296.1",
"strand": true,
"transcript": "ENST00000445196.5",
"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": 637,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000460956.5",
"gene_hgnc_id": 28405,
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