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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: 3-128064906-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128064906&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128064906,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001400328.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Leu216Val",
"transcript": "NM_013336.4",
"protein_id": "NP_037468.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 476,
"cds_start": 646,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000243253.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013336.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Leu216Val",
"transcript": "ENST00000243253.8",
"protein_id": "ENSP00000243253.3",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 476,
"cds_start": 646,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013336.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243253.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.646C>G",
"hgvs_p": null,
"transcript": "ENST00000483956.2",
"protein_id": "ENSP00000514247.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000483956.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Leu216Val",
"transcript": "ENST00000937479.1",
"protein_id": "ENSP00000607538.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 517,
"cds_start": 646,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937479.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Leu216Val",
"transcript": "ENST00000699273.1",
"protein_id": "ENSP00000514253.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 485,
"cds_start": 646,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699273.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Leu224Val",
"transcript": "ENST00000881449.1",
"protein_id": "ENSP00000551508.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 484,
"cds_start": 670,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881449.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.664C>G",
"hgvs_p": "p.Leu222Val",
"transcript": "NM_001400328.1",
"protein_id": "NP_001387257.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 482,
"cds_start": 664,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400328.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.664C>G",
"hgvs_p": "p.Leu222Val",
"transcript": "ENST00000464451.5",
"protein_id": "ENSP00000418493.1",
"transcript_support_level": 2,
"aa_start": 222,
"aa_end": null,
"aa_length": 482,
"cds_start": 664,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464451.5"
},
{
"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": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.487C>G",
"hgvs_p": "p.Leu163Val",
"transcript": "NM_001400329.1",
"protein_id": "NP_001387258.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 423,
"cds_start": 487,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400329.1"
},
{
"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": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.487C>G",
"hgvs_p": "p.Leu163Val",
"transcript": "ENST00000481210.6",
"protein_id": "ENSP00000419172.2",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 423,
"cds_start": 487,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481210.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Leu216Val",
"transcript": "ENST00000699267.1",
"protein_id": "ENSP00000514248.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 415,
"cds_start": 646,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699267.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Leu216Val",
"transcript": "ENST00000881448.1",
"protein_id": "ENSP00000551507.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 410,
"cds_start": 646,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881448.1"
},
{
"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": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Leu96Val",
"transcript": "ENST00000424880.2",
"protein_id": "ENSP00000411445.2",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 356,
"cds_start": 286,
"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": "ENST00000424880.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Leu216Val",
"transcript": "ENST00000699269.1",
"protein_id": "ENSP00000514249.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 346,
"cds_start": 646,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699269.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL1",
"gene_hgnc_id": 10474,
"hgvs_c": "c.*351G>C",
"hgvs_p": null,
"transcript": "ENST00000881248.1",
"protein_id": "ENSP00000551307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881248.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL1",
"gene_hgnc_id": 10474,
"hgvs_c": "c.*306G>C",
"hgvs_p": null,
"transcript": "NM_001319086.1",
"protein_id": "NP_001306015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": null,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL1",
"gene_hgnc_id": 10474,
"hgvs_c": "c.*306G>C",
"hgvs_p": null,
"transcript": "ENST00000464873.5",
"protein_id": "ENSP00000420738.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": null,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464873.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL1",
"gene_hgnc_id": 10474,
"hgvs_c": "c.*122G>C",
"hgvs_p": null,
"transcript": "ENST00000472125.5",
"protein_id": "ENSP00000417370.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472125.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL1",
"gene_hgnc_id": 10474,
"hgvs_c": "c.*122G>C",
"hgvs_p": null,
"transcript": "XM_017007356.3",
"protein_id": "XP_016862845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": null,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007356.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL1",
"gene_hgnc_id": 10474,
"hgvs_c": "c.*122G>C",
"hgvs_p": null,
"transcript": "XM_017007357.3",
"protein_id": "XP_016862846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007357.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL1",
"gene_hgnc_id": 10474,
"hgvs_c": "c.*359G>C",
"hgvs_p": null,
"transcript": "XM_011513248.3",
"protein_id": "XP_011511550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": null,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513248.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUVBL1",
"gene_hgnc_id": 10474,
"hgvs_c": "c.*306G>C",
"hgvs_p": null,
"transcript": "XM_011513249.4",
"protein_id": "XP_011511551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513249.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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{
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"feature": "ENST00000699275.1"
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],
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"dbsnp": "rs1354357334",
"frequency_reference_population": 0.000018495253,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000184953,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.693090558052063,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.242,
"revel_prediction": "Benign",
"alphamissense_score": 0.3335,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.365,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001400328.1",
"gene_symbol": "SEC61A1",
"hgnc_id": 18276,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.664C>G",
"hgvs_p": "p.Leu222Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001319086.1",
"gene_symbol": "RUVBL1",
"hgnc_id": 10474,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*306G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}