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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: 11-61898301-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61898301&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61898301,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013401.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1126G>C",
"hgvs_p": "p.Gly376Arg",
"transcript": "NM_013401.4",
"protein_id": "NP_037533.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 382,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394836.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013401.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1126G>C",
"hgvs_p": "p.Gly376Arg",
"transcript": "ENST00000394836.7",
"protein_id": "ENSP00000378313.2",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 382,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013401.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394836.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Gly350Arg",
"transcript": "ENST00000301773.9",
"protein_id": "ENSP00000301773.5",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 356,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301773.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Gly471Arg",
"transcript": "ENST00000531922.2",
"protein_id": "ENSP00000435444.2",
"transcript_support_level": 3,
"aa_start": 471,
"aa_end": null,
"aa_length": 477,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531922.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1270G>C",
"hgvs_p": "p.Gly424Arg",
"transcript": "ENST00000867937.1",
"protein_id": "ENSP00000537996.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 430,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867937.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1267G>C",
"hgvs_p": "p.Gly423Arg",
"transcript": "ENST00000964391.1",
"protein_id": "ENSP00000634450.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 429,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964391.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1219G>C",
"hgvs_p": "p.Gly407Arg",
"transcript": "ENST00000867936.1",
"protein_id": "ENSP00000537995.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 413,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867936.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1126G>C",
"hgvs_p": "p.Gly376Arg",
"transcript": "ENST00000867933.1",
"protein_id": "ENSP00000537992.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 382,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867933.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1123G>C",
"hgvs_p": "p.Gly375Arg",
"transcript": "ENST00000867935.1",
"protein_id": "ENSP00000537994.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 381,
"cds_start": 1123,
"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": "ENST00000867935.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1048G>C",
"hgvs_p": "p.Gly350Arg",
"transcript": "NM_001271686.2",
"protein_id": "NP_001258615.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 356,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271686.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Gly310Arg",
"transcript": "ENST00000964392.1",
"protein_id": "ENSP00000634451.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 316,
"cds_start": 928,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964392.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.907G>C",
"hgvs_p": "p.Gly303Arg",
"transcript": "ENST00000867934.1",
"protein_id": "ENSP00000537993.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 309,
"cds_start": 907,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867934.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.904G>C",
"hgvs_p": "p.Gly302Arg",
"transcript": "ENST00000923689.1",
"protein_id": "ENSP00000593748.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 308,
"cds_start": 904,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923689.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.175G>C",
"hgvs_p": "p.Gly59Arg",
"transcript": "ENST00000526200.1",
"protein_id": "ENSP00000432745.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 65,
"cds_start": 175,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526200.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1267G>C",
"hgvs_p": "p.Gly423Arg",
"transcript": "XM_005274140.6",
"protein_id": "XP_005274197.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 429,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274140.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1264G>C",
"hgvs_p": "p.Gly422Arg",
"transcript": "XM_006718647.5",
"protein_id": "XP_006718710.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 428,
"cds_start": 1264,
"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": "XM_006718647.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.1123G>C",
"hgvs_p": "p.Gly375Arg",
"transcript": "XM_047427380.1",
"protein_id": "XP_047283336.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 381,
"cds_start": 1123,
"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": "XM_047427380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "n.486G>C",
"hgvs_p": null,
"transcript": "ENST00000533136.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000533136.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.*374G>C",
"hgvs_p": null,
"transcript": "XM_011545196.3",
"protein_id": "XP_011543498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545196.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.*374G>C",
"hgvs_p": null,
"transcript": "XM_011545197.3",
"protein_id": "XP_011543499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545197.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.*374G>C",
"hgvs_p": null,
"transcript": "XM_011545198.3",
"protein_id": "XP_011543500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": null,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545198.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.*374G>C",
"hgvs_p": null,
"transcript": "XM_011545199.3",
"protein_id": "XP_011543501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": null,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545199.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"hgvs_c": "c.*374G>C",
"hgvs_p": null,
"transcript": "XM_011545200.3",
"protein_id": "XP_011543502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545200.3"
}
],
"gene_symbol": "RAB3IL1",
"gene_hgnc_id": 9780,
"dbsnp": "rs372306821",
"frequency_reference_population": 0.00015247965,
"hom_count_reference_population": 0,
"allele_count_reference_population": 246,
"gnomad_exomes_af": 0.000158098,
"gnomad_genomes_af": 0.0000985494,
"gnomad_exomes_ac": 231,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.957021176815033,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.924,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9805,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.844,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.1,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013401.4",
"gene_symbol": "RAB3IL1",
"hgnc_id": 9780,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1126G>C",
"hgvs_p": "p.Gly376Arg"
}
],
"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
}