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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: 19-44792389-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44792389&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44792389,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012116.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Leu338Val",
"transcript": "NM_012116.4",
"protein_id": "NP_036248.3",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 474,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647358.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012116.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Leu338Val",
"transcript": "ENST00000647358.2",
"protein_id": "ENSP00000494162.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 474,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012116.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647358.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Leu292Val",
"transcript": "ENST00000341505.4",
"protein_id": "ENSP00000340250.4",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 428,
"cds_start": 874,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341505.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Leu338Val",
"transcript": "ENST00000880089.1",
"protein_id": "ENSP00000550148.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 512,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880089.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Leu338Val",
"transcript": "ENST00000880087.1",
"protein_id": "ENSP00000550146.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 506,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880087.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Leu292Val",
"transcript": "ENST00000880095.1",
"protein_id": "ENSP00000550154.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 460,
"cds_start": 874,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880095.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Leu338Val",
"transcript": "ENST00000880094.1",
"protein_id": "ENSP00000550153.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 444,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880094.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Leu292Val",
"transcript": "NM_001130852.1",
"protein_id": "NP_001124324.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 428,
"cds_start": 874,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130852.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.802C>G",
"hgvs_p": "p.Leu268Val",
"transcript": "ENST00000880091.1",
"protein_id": "ENSP00000550150.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 404,
"cds_start": 802,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880091.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.802C>G",
"hgvs_p": "p.Leu268Val",
"transcript": "ENST00000880093.1",
"protein_id": "ENSP00000550152.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 404,
"cds_start": 802,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880093.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Leu338Val",
"transcript": "ENST00000880097.1",
"protein_id": "ENSP00000550156.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 399,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880097.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.733C>G",
"hgvs_p": "p.Leu245Val",
"transcript": "ENST00000880088.1",
"protein_id": "ENSP00000550147.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 381,
"cds_start": 733,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880088.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.586C>G",
"hgvs_p": "p.Leu196Val",
"transcript": "ENST00000916799.1",
"protein_id": "ENSP00000586858.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 332,
"cds_start": 586,
"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": "ENST00000916799.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000880092.1",
"protein_id": "ENSP00000550151.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 286,
"cds_start": 448,
"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": "ENST00000880092.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Leu338Val",
"transcript": "XM_011526688.3",
"protein_id": "XP_011524990.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 493,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526688.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Leu292Val",
"transcript": "XM_011526689.3",
"protein_id": "XP_011524991.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 447,
"cds_start": 874,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526689.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Leu338Val",
"transcript": "XM_005258696.4",
"protein_id": "XP_005258753.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 431,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258696.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.1006C>G",
"hgvs_p": "p.Leu336Val",
"transcript": "ENST00000880090.1",
"protein_id": "ENSP00000550149.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 472,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880090.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.580C>G",
"hgvs_p": "p.Leu194Val",
"transcript": "ENST00000880096.1",
"protein_id": "ENSP00000550155.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 330,
"cds_start": 580,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880096.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.*54C>G",
"hgvs_p": null,
"transcript": "XM_011526690.3",
"protein_id": "XP_011524992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526690.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "c.*50C>G",
"hgvs_p": null,
"transcript": "XM_047438552.1",
"protein_id": "XP_047294508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438552.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "n.*107C>G",
"hgvs_p": null,
"transcript": "ENST00000647063.1",
"protein_id": "ENSP00000495258.1",
"transcript_support_level": null,
"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": "ENST00000647063.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"hgvs_c": "n.*107C>G",
"hgvs_p": null,
"transcript": "ENST00000647063.1",
"protein_id": "ENSP00000495258.1",
"transcript_support_level": null,
"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": "ENST00000647063.1"
}
],
"gene_symbol": "CBLC",
"gene_hgnc_id": 15961,
"dbsnp": "rs758907585",
"frequency_reference_population": 6.843372e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84337e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4013946056365967,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.361,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1546,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.915,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.15,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012116.4",
"gene_symbol": "CBLC",
"hgnc_id": 15961,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Leu338Val"
}
],
"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
}