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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: 21-43094667-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43094667&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "U2AF1",
"hgnc_id": 12453,
"hgvs_c": "c.470A>T",
"hgvs_p": "p.Gln157Leu",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_006758.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP2,PP3",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9802,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7737837433815002,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 240,
"aa_ref": "Q",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 546,
"cds_end": null,
"cds_length": 723,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_006758.3",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.470A>T",
"hgvs_p": "p.Gln157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000291552.9",
"protein_coding": true,
"protein_id": "NP_006749.1",
"strand": false,
"transcript": "NM_006758.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 240,
"aa_ref": "Q",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 546,
"cds_end": null,
"cds_length": 723,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000291552.9",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.470A>T",
"hgvs_p": "p.Gln157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006758.3",
"protein_coding": true,
"protein_id": "ENSP00000291552.4",
"strand": false,
"transcript": "ENST00000291552.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 240,
"aa_ref": "Q",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 940,
"cdna_start": 541,
"cds_end": null,
"cds_length": 723,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000380276.6",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.470A>T",
"hgvs_p": "p.Gln157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369629.2",
"strand": false,
"transcript": "ENST00000380276.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "Q",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1675,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 504,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000459639.5",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.251A>T",
"hgvs_p": "p.Gln84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418705.1",
"strand": false,
"transcript": "ENST00000459639.5",
"transcript_support_level": 1
},
{
"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": 966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000464750.5",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "n.*309A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420672.1",
"strand": false,
"transcript": "ENST00000464750.5",
"transcript_support_level": 1
},
{
"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": 4694,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000475639.5",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "n.4295A>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": "ENST00000475639.5",
"transcript_support_level": 1
},
{
"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": 966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000464750.5",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "n.*309A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420672.1",
"strand": false,
"transcript": "ENST00000464750.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 240,
"aa_ref": "Q",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 953,
"cdna_start": 554,
"cds_end": null,
"cds_length": 723,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001025203.1",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.470A>T",
"hgvs_p": "p.Gln157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020374.1",
"strand": false,
"transcript": "NM_001025203.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 239,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 941,
"cdna_start": 543,
"cds_end": null,
"cds_length": 720,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000887979.1",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.467A>T",
"hgvs_p": "p.Gln156Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558038.1",
"strand": false,
"transcript": "ENST00000887979.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 239,
"aa_ref": "Q",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 938,
"cdna_start": 540,
"cds_end": null,
"cds_length": 720,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000887981.1",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.467A>T",
"hgvs_p": "p.Gln156Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558040.1",
"strand": false,
"transcript": "ENST00000887981.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 238,
"aa_ref": "Q",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 935,
"cdna_start": 543,
"cds_end": null,
"cds_length": 717,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000887980.1",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.470A>T",
"hgvs_p": "p.Gln157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558039.1",
"strand": false,
"transcript": "ENST00000887980.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 238,
"aa_ref": "Q",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 974,
"cdna_start": 581,
"cds_end": null,
"cds_length": 717,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000921413.1",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.470A>T",
"hgvs_p": "p.Gln157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591472.1",
"strand": false,
"transcript": "ENST00000921413.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "Q",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 921,
"cdna_start": 522,
"cds_end": null,
"cds_length": 702,
"cds_start": 449,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000921415.1",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.449A>T",
"hgvs_p": "p.Gln150Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591474.1",
"strand": false,
"transcript": "ENST00000921415.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 207,
"aa_ref": "Q",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 835,
"cdna_start": 437,
"cds_end": null,
"cds_length": 624,
"cds_start": 371,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000887982.1",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.371A>T",
"hgvs_p": "p.Gln124Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558041.1",
"strand": false,
"transcript": "ENST00000887982.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 207,
"aa_ref": "Q",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 804,
"cdna_start": 405,
"cds_end": null,
"cds_length": 624,
"cds_start": 371,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921416.1",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.371A>T",
"hgvs_p": "p.Gln124Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591475.1",
"strand": false,
"transcript": "ENST00000921416.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 201,
"aa_ref": "Q",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 816,
"cdna_start": 419,
"cds_end": null,
"cds_length": 606,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000887983.1",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.353A>T",
"hgvs_p": "p.Gln118Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558042.1",
"strand": false,
"transcript": "ENST00000887983.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 168,
"aa_ref": "Q",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 638,
"cdna_start": 284,
"cds_end": null,
"cds_length": 507,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000887984.1",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.254A>T",
"hgvs_p": "p.Gln85Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558043.1",
"strand": false,
"transcript": "ENST00000887984.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "Q",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": 613,
"cds_end": null,
"cds_length": 504,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001025204.2",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.251A>T",
"hgvs_p": "p.Gln84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020375.1",
"strand": false,
"transcript": "NM_001025204.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 207,
"aa_ref": "Q",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 854,
"cdna_start": 455,
"cds_end": null,
"cds_length": 624,
"cds_start": 371,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011529743.4",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.371A>T",
"hgvs_p": "p.Gln124Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528045.1",
"strand": false,
"transcript": "XM_011529743.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 207,
"aa_ref": "Q",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 854,
"cdna_start": 455,
"cds_end": null,
"cds_length": 624,
"cds_start": 371,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017028468.3",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.371A>T",
"hgvs_p": "p.Gln124Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883957.1",
"strand": false,
"transcript": "XM_017028468.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "Q",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1007,
"cdna_start": 608,
"cds_end": null,
"cds_length": 504,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_024452129.2",
"gene_hgnc_id": 12453,
"gene_symbol": "U2AF1",
"hgvs_c": "c.251A>T",
"hgvs_p": "p.Gln84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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