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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: 1-31658490-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31658490&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 31658490,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001856.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4018C>A",
"hgvs_p": "p.Pro1340Thr",
"transcript": "NM_001856.4",
"protein_id": "NP_001847.3",
"transcript_support_level": null,
"aa_start": 1340,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4018,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373672.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001856.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.4018C>A",
"hgvs_p": "p.Pro1340Thr",
"transcript": "ENST00000373672.8",
"protein_id": "ENSP00000362776.3",
"transcript_support_level": 5,
"aa_start": 1340,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4018,
"cds_end": null,
"cds_length": 4815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001856.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373672.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "n.1261C>A",
"hgvs_p": null,
"transcript": "ENST00000488897.5",
"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": "ENST00000488897.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3973C>A",
"hgvs_p": "p.Pro1325Thr",
"transcript": "ENST00000873809.1",
"protein_id": "ENSP00000543868.1",
"transcript_support_level": null,
"aa_start": 1325,
"aa_end": null,
"aa_length": 1589,
"cds_start": 3973,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873809.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3838C>A",
"hgvs_p": "p.Pro1280Thr",
"transcript": "ENST00000933935.1",
"protein_id": "ENSP00000603994.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1544,
"cds_start": 3838,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933935.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3694C>A",
"hgvs_p": "p.Pro1232Thr",
"transcript": "ENST00000873810.1",
"protein_id": "ENSP00000543869.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3694,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873810.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.589C>A",
"hgvs_p": "p.Pro197Thr",
"transcript": "ENST00000440437.1",
"protein_id": "ENSP00000390281.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 223,
"cds_start": 589,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440437.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3985C>A",
"hgvs_p": "p.Pro1329Thr",
"transcript": "XM_017000338.2",
"protein_id": "XP_016855827.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1593,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000338.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3982C>A",
"hgvs_p": "p.Pro1328Thr",
"transcript": "XM_017000339.2",
"protein_id": "XP_016855828.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1592,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000339.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3973C>A",
"hgvs_p": "p.Pro1325Thr",
"transcript": "XM_011540722.2",
"protein_id": "XP_011539024.1",
"transcript_support_level": null,
"aa_start": 1325,
"aa_end": null,
"aa_length": 1589,
"cds_start": 3973,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540722.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3970C>A",
"hgvs_p": "p.Pro1324Thr",
"transcript": "XM_005270481.2",
"protein_id": "XP_005270538.1",
"transcript_support_level": null,
"aa_start": 1324,
"aa_end": null,
"aa_length": 1588,
"cds_start": 3970,
"cds_end": null,
"cds_length": 4767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270481.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3925C>A",
"hgvs_p": "p.Pro1309Thr",
"transcript": "XM_011540723.2",
"protein_id": "XP_011539025.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1573,
"cds_start": 3925,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540723.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3895C>A",
"hgvs_p": "p.Pro1299Thr",
"transcript": "XM_011540724.2",
"protein_id": "XP_011539026.1",
"transcript_support_level": null,
"aa_start": 1299,
"aa_end": null,
"aa_length": 1563,
"cds_start": 3895,
"cds_end": null,
"cds_length": 4692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540724.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3889C>A",
"hgvs_p": "p.Pro1297Thr",
"transcript": "XM_047446431.1",
"protein_id": "XP_047302387.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1561,
"cds_start": 3889,
"cds_end": null,
"cds_length": 4686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446431.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3850C>A",
"hgvs_p": "p.Pro1284Thr",
"transcript": "XM_047446432.1",
"protein_id": "XP_047302388.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3850,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446432.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3766C>A",
"hgvs_p": "p.Pro1256Thr",
"transcript": "XM_047446435.1",
"protein_id": "XP_047302391.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1520,
"cds_start": 3766,
"cds_end": null,
"cds_length": 4563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446435.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3457C>A",
"hgvs_p": "p.Pro1153Thr",
"transcript": "XM_047446439.1",
"protein_id": "XP_047302395.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3457,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446439.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.3112C>A",
"hgvs_p": "p.Pro1038Thr",
"transcript": "XM_011540727.3",
"protein_id": "XP_011539029.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3112,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540727.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.2473C>A",
"hgvs_p": "p.Pro825Thr",
"transcript": "XM_011540728.3",
"protein_id": "XP_011539030.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2473,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540728.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.2437C>A",
"hgvs_p": "p.Pro813Thr",
"transcript": "XM_017000340.3",
"protein_id": "XP_016855829.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2437,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000340.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL16A1",
"gene_hgnc_id": 2193,
"hgvs_c": "c.2290C>A",
"hgvs_p": "p.Pro764Thr",
"transcript": "XM_017000341.2",
"protein_id": "XP_016855830.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2290,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000341.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}