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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: 17-35922628-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35922628&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35922628,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_145654.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.616A>C",
"hgvs_p": "p.Ile206Leu",
"transcript": "NM_145654.4",
"protein_id": "NP_663629.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 284,
"cds_start": 616,
"cds_end": null,
"cds_length": 855,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": "ENST00000620284.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145654.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.616A>C",
"hgvs_p": "p.Ile206Leu",
"transcript": "ENST00000620284.5",
"protein_id": "ENSP00000483549.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 284,
"cds_start": 616,
"cds_end": null,
"cds_length": 855,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": "NM_145654.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620284.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.547A>C",
"hgvs_p": "p.Ile183Leu",
"transcript": "ENST00000619262.4",
"protein_id": "ENSP00000479310.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 261,
"cds_start": 547,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619262.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.568+1976A>C",
"hgvs_p": null,
"transcript": "ENST00000616596.4",
"protein_id": "ENSP00000478915.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616596.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.499+1976A>C",
"hgvs_p": null,
"transcript": "ENST00000619828.4",
"protein_id": "ENSP00000483933.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619828.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.399+2887A>C",
"hgvs_p": null,
"transcript": "ENST00000612980.4",
"protein_id": "ENSP00000483387.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612980.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.330+2887A>C",
"hgvs_p": null,
"transcript": "ENST00000617591.4",
"protein_id": "ENSP00000479622.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": null,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617591.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.*27A>C",
"hgvs_p": null,
"transcript": "ENST00000615024.4",
"protein_id": "ENSP00000481648.1",
"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": 617,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000615024.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.*27A>C",
"hgvs_p": null,
"transcript": "ENST00000619193.4",
"protein_id": "ENSP00000482981.1",
"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": 686,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000619193.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.*27A>C",
"hgvs_p": null,
"transcript": "ENST00000619368.4",
"protein_id": "ENSP00000478131.1",
"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": 506,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000619368.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.*27A>C",
"hgvs_p": null,
"transcript": "ENST00000615024.4",
"protein_id": "ENSP00000481648.1",
"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": 617,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000615024.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.*27A>C",
"hgvs_p": null,
"transcript": "ENST00000619193.4",
"protein_id": "ENSP00000482981.1",
"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": 686,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000619193.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.*27A>C",
"hgvs_p": null,
"transcript": "ENST00000619368.4",
"protein_id": "ENSP00000478131.1",
"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": 506,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000619368.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.400-2356A>C",
"hgvs_p": null,
"transcript": "ENST00000615288.4",
"protein_id": "ENSP00000477869.1",
"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": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000615288.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "n.331-2356A>C",
"hgvs_p": null,
"transcript": "ENST00000618511.4",
"protein_id": "ENSP00000477995.1",
"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": 518,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000618511.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.547A>C",
"hgvs_p": "p.Ile183Leu",
"transcript": "NM_001163130.1",
"protein_id": "NP_001156602.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 261,
"cds_start": 547,
"cds_end": null,
"cds_length": 786,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163130.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.616A>C",
"hgvs_p": "p.Ile206Leu",
"transcript": "NM_001034836.2",
"protein_id": "NP_001030008.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 236,
"cds_start": 616,
"cds_end": null,
"cds_length": 711,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034836.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.616A>C",
"hgvs_p": "p.Ile206Leu",
"transcript": "ENST00000613308.4",
"protein_id": "ENSP00000482288.1",
"transcript_support_level": 3,
"aa_start": 206,
"aa_end": null,
"aa_length": 236,
"cds_start": 616,
"cds_end": null,
"cds_length": 711,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613308.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.547A>C",
"hgvs_p": "p.Ile183Leu",
"transcript": "ENST00000619876.4",
"protein_id": "ENSP00000483890.1",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 213,
"cds_start": 547,
"cds_end": null,
"cds_length": 642,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619876.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.616A>C",
"hgvs_p": "p.Ile206Leu",
"transcript": "XM_011524509.3",
"protein_id": "XP_011522811.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 252,
"cds_start": 616,
"cds_end": null,
"cds_length": 759,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524509.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.*27A>C",
"hgvs_p": null,
"transcript": "NM_001330194.2",
"protein_id": "NP_001317123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": null,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330194.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDM1",
"gene_hgnc_id": 19950,
"hgvs_c": "c.*27A>C",
"hgvs_p": null,
"transcript": "NM_001163125.1",
"protein_id": "NP_001156597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163125.1"
},
{
"aa_ref": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}