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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: 17-30923056-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=30923056&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 30923056,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001346712.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "NM_018404.3",
"protein_id": "NP_060874.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 381,
"cds_start": 211,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330889.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018404.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000330889.8",
"protein_id": "ENSP00000329468.3",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 381,
"cds_start": 211,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018404.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330889.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000580525.6",
"protein_id": "ENSP00000464121.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 387,
"cds_start": 211,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580525.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000890570.1",
"protein_id": "ENSP00000560629.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 402,
"cds_start": 211,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890570.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "NM_001346712.2",
"protein_id": "NP_001333641.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 387,
"cds_start": 211,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346712.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000890568.1",
"protein_id": "ENSP00000560627.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 386,
"cds_start": 211,
"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": "ENST00000890568.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000968793.1",
"protein_id": "ENSP00000638852.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 386,
"cds_start": 211,
"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": "ENST00000968793.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "NM_001346714.2",
"protein_id": "NP_001333643.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 380,
"cds_start": 211,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346714.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000890566.1",
"protein_id": "ENSP00000560625.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 380,
"cds_start": 211,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890566.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000890572.1",
"protein_id": "ENSP00000560631.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 361,
"cds_start": 211,
"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": "ENST00000890572.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000890567.1",
"protein_id": "ENSP00000560626.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 359,
"cds_start": 211,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890567.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "NM_001346716.2",
"protein_id": "NP_001333645.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 355,
"cds_start": 211,
"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": "NM_001346716.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000968789.1",
"protein_id": "ENSP00000638848.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 355,
"cds_start": 211,
"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": "ENST00000968789.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000968790.1",
"protein_id": "ENSP00000638849.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 354,
"cds_start": 211,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968790.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000968791.1",
"protein_id": "ENSP00000638850.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 338,
"cds_start": 211,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968791.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000890571.1",
"protein_id": "ENSP00000560630.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 334,
"cds_start": 211,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890571.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000581285.5",
"protein_id": "ENSP00000464155.1",
"transcript_support_level": 3,
"aa_start": 71,
"aa_end": null,
"aa_length": 332,
"cds_start": 211,
"cds_end": null,
"cds_length": 1000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581285.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000968788.1",
"protein_id": "ENSP00000638847.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 332,
"cds_start": 211,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968788.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000968792.1",
"protein_id": "ENSP00000638851.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 332,
"cds_start": 211,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968792.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000890569.1",
"protein_id": "ENSP00000560628.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 331,
"cds_start": 211,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890569.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "ENST00000968794.1",
"protein_id": "ENSP00000638853.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 286,
"cds_start": 211,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968794.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAP2",
"gene_hgnc_id": 16487,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Asp71Asn",
"transcript": "XM_024450832.2",
"protein_id": "XP_024306600.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 386,
"cds_start": 211,
"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": "XM_024450832.2"
},
{
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{
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"verdict": "Uncertain_significance",
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}
],
"message": null
}