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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: X-154403308-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154403308&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154403308,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_006730.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "NM_001303620.2",
"protein_id": "NP_001290549.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": "ENST00000369807.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303620.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000369807.6",
"protein_id": "ENSP00000358822.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": "NM_001303620.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369807.6"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000309585.9",
"protein_id": "ENSP00000309168.5",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309585.9"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000369808.7",
"protein_id": "ENSP00000358823.3",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369808.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL10",
"gene_hgnc_id": 10298,
"hgvs_c": "c.324G>C",
"hgvs_p": "p.Ser108Ser",
"transcript": "ENST00000451365.1",
"protein_id": "ENSP00000406125.1",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 108,
"cds_start": 324,
"cds_end": null,
"cds_length": 327,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451365.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.546C>G",
"hgvs_p": "p.Tyr182*",
"transcript": "ENST00000862494.1",
"protein_id": "ENSP00000532553.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 322,
"cds_start": 546,
"cds_end": null,
"cds_length": 969,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862494.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "NM_001009932.3",
"protein_id": "NP_001009932.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009932.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "NM_001009933.3",
"protein_id": "NP_001009933.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009933.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "NM_001009934.3",
"protein_id": "NP_001009934.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009934.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "NM_006730.4",
"protein_id": "NP_006721.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006730.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000014935.7",
"protein_id": "ENSP00000014935.3",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000014935.7"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000369809.5",
"protein_id": "ENSP00000358824.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369809.5"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000393638.5",
"protein_id": "ENSP00000377255.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393638.5"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000862481.1",
"protein_id": "ENSP00000532540.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862481.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000862482.1",
"protein_id": "ENSP00000532541.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862482.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000862483.1",
"protein_id": "ENSP00000532542.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862483.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000862484.1",
"protein_id": "ENSP00000532543.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862484.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000862485.1",
"protein_id": "ENSP00000532544.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862485.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000862486.1",
"protein_id": "ENSP00000532545.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862486.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000862487.1",
"protein_id": "ENSP00000532546.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862487.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000862488.1",
"protein_id": "ENSP00000532547.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862488.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1L1",
"gene_hgnc_id": 2957,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Tyr162*",
"transcript": "ENST00000862489.1",
"protein_id": "ENSP00000532548.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 302,
"cds_start": 486,
"cds_end": null,
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{
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],
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}
],
"message": null
}