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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: 2-74527774-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74527774&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74527774,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_181575.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Met268Lys",
"transcript": "NM_181575.5",
"protein_id": "NP_853553.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 410,
"cds_start": 803,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377526.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181575.5"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Met268Lys",
"transcript": "ENST00000377526.4",
"protein_id": "ENSP00000366748.3",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 410,
"cds_start": 803,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181575.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377526.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "n.803T>A",
"hgvs_p": null,
"transcript": "ENST00000425118.5",
"protein_id": "ENSP00000403430.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000425118.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "n.1067T>A",
"hgvs_p": null,
"transcript": "ENST00000463900.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463900.5"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Met268Lys",
"transcript": "ENST00000890035.1",
"protein_id": "ENSP00000560094.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 422,
"cds_start": 803,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890035.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Met268Lys",
"transcript": "ENST00000954392.1",
"protein_id": "ENSP00000624451.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 421,
"cds_start": 803,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954392.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Met268Lys",
"transcript": "ENST00000890029.1",
"protein_id": "ENSP00000560088.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 420,
"cds_start": 803,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890029.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.806T>A",
"hgvs_p": "p.Met269Lys",
"transcript": "ENST00000890022.1",
"protein_id": "ENSP00000560081.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 411,
"cds_start": 806,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890022.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Met268Lys",
"transcript": "ENST00000890033.1",
"protein_id": "ENSP00000560092.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 409,
"cds_start": 803,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890033.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.800T>A",
"hgvs_p": "p.Met267Lys",
"transcript": "ENST00000890037.1",
"protein_id": "ENSP00000560096.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 409,
"cds_start": 800,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890037.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.794T>A",
"hgvs_p": "p.Met265Lys",
"transcript": "ENST00000890024.1",
"protein_id": "ENSP00000560083.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 407,
"cds_start": 794,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890024.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.776T>A",
"hgvs_p": "p.Met259Lys",
"transcript": "ENST00000954391.1",
"protein_id": "ENSP00000624450.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 401,
"cds_start": 776,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954391.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Met268Lys",
"transcript": "ENST00000890027.1",
"protein_id": "ENSP00000560086.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 392,
"cds_start": 803,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890027.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Met268Lys",
"transcript": "ENST00000890026.1",
"protein_id": "ENSP00000560085.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 386,
"cds_start": 803,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890026.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.731T>A",
"hgvs_p": "p.Met244Lys",
"transcript": "ENST00000890036.1",
"protein_id": "ENSP00000560095.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 386,
"cds_start": 731,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890036.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.725T>A",
"hgvs_p": "p.Met242Lys",
"transcript": "ENST00000954390.1",
"protein_id": "ENSP00000624449.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 384,
"cds_start": 725,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954390.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.803T>A",
"hgvs_p": "p.Met268Lys",
"transcript": "ENST00000890023.1",
"protein_id": "ENSP00000560082.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 370,
"cds_start": 803,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890023.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.668T>A",
"hgvs_p": "p.Met223Lys",
"transcript": "ENST00000936888.1",
"protein_id": "ENSP00000606947.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 365,
"cds_start": 668,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936888.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.665T>A",
"hgvs_p": "p.Met222Lys",
"transcript": "ENST00000890021.1",
"protein_id": "ENSP00000560080.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 364,
"cds_start": 665,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890021.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.659T>A",
"hgvs_p": "p.Met220Lys",
"transcript": "ENST00000890034.1",
"protein_id": "ENSP00000560093.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 362,
"cds_start": 659,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890034.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.656T>A",
"hgvs_p": "p.Met219Lys",
"transcript": "ENST00000890031.1",
"protein_id": "ENSP00000560090.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 361,
"cds_start": 656,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890031.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUP1",
"gene_hgnc_id": 891,
"hgvs_c": "c.638T>A",
"hgvs_p": "p.Met213Lys",
"transcript": "ENST00000936889.1",
"protein_id": "ENSP00000606948.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 355,
"cds_start": 638,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936889.1"
},
{
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.745,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_181575.5",
"gene_symbol": "AUP1",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}