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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: 19-4207511-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4207511&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4207511,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001393552.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "NM_001393985.1",
"protein_id": "NP_001380914.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318934.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393985.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "ENST00000318934.9",
"protein_id": "ENSP00000321731.4",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393985.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318934.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Thr154Ile",
"transcript": "ENST00000597689.5",
"protein_id": "ENSP00000470227.1",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 838,
"cds_start": 461,
"cds_end": null,
"cds_length": 2519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597689.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Thr273Ile",
"transcript": "ENST00000262970.9",
"protein_id": "ENSP00000262970.4",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
"aa_length": 1236,
"cds_start": 818,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262970.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Ile",
"transcript": "NM_001393552.1",
"protein_id": "NP_001380481.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1155,
"cds_start": 575,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393552.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Ile",
"transcript": "ENST00000966466.1",
"protein_id": "ENSP00000636525.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1155,
"cds_start": 575,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966466.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.566C>T",
"hgvs_p": "p.Thr189Ile",
"transcript": "ENST00000966467.1",
"protein_id": "ENSP00000636526.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 1152,
"cds_start": 566,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966467.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "NM_001393553.1",
"protein_id": "NP_001380482.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393553.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "NM_133475.1",
"protein_id": "NP_597732.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133475.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "ENST00000600132.5",
"protein_id": "ENSP00000471252.1",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600132.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "ENST00000870288.1",
"protein_id": "ENSP00000540347.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870288.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "ENST00000870289.1",
"protein_id": "ENSP00000540348.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870289.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "ENST00000966468.1",
"protein_id": "ENSP00000636527.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966468.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "ENST00000966470.1",
"protein_id": "ENSP00000636529.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966470.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "ENST00000966472.1",
"protein_id": "ENSP00000636531.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966472.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Thr183Ile",
"transcript": "ENST00000966473.1",
"protein_id": "ENSP00000636532.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1146,
"cds_start": 548,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966473.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Thr167Ile",
"transcript": "NM_001393557.1",
"protein_id": "NP_001380486.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1130,
"cds_start": 500,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393557.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "ENST00000966471.1",
"protein_id": "ENSP00000636530.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 1126,
"cds_start": 488,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966471.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Ile",
"transcript": "NM_001393556.1",
"protein_id": "NP_001380485.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 1118,
"cds_start": 464,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393556.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Thr154Ile",
"transcript": "NM_001393555.1",
"protein_id": "NP_001380484.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1117,
"cds_start": 461,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393555.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Thr113Ile",
"transcript": "ENST00000966469.1",
"protein_id": "ENSP00000636528.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1076,
"cds_start": 338,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966469.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD24",
"gene_hgnc_id": 29424,
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Thr206Ile",
"transcript": "XM_011527756.3",
"protein_id": "XP_011526058.2",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1234,
"cds_start": 617,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
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{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}