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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: 5-178211964-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178211964&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 178211964,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153373.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Glu437Gly",
"transcript": "NM_153373.4",
"protein_id": "NP_699204.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 450,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308158.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153373.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Glu437Gly",
"transcript": "ENST00000308158.10",
"protein_id": "ENSP00000310978.5",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 450,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153373.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308158.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.*698A>G",
"hgvs_p": null,
"transcript": "ENST00000474052.5",
"protein_id": "ENSP00000423806.1",
"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": "ENST00000474052.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.1951A>G",
"hgvs_p": null,
"transcript": "ENST00000494126.6",
"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": "ENST00000494126.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.*698A>G",
"hgvs_p": null,
"transcript": "ENST00000474052.5",
"protein_id": "ENSP00000423806.1",
"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": "ENST00000474052.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1466A>G",
"hgvs_p": "p.Glu489Gly",
"transcript": "ENST00000962530.1",
"protein_id": "ENSP00000632589.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 502,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962530.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Glu451Gly",
"transcript": "ENST00000323594.9",
"protein_id": "ENSP00000321290.5",
"transcript_support_level": 5,
"aa_start": 451,
"aa_end": null,
"aa_length": 464,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323594.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1343A>G",
"hgvs_p": "p.Glu448Gly",
"transcript": "ENST00000885009.1",
"protein_id": "ENSP00000555068.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 461,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885009.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1340A>G",
"hgvs_p": "p.Glu447Gly",
"transcript": "ENST00000884991.1",
"protein_id": "ENSP00000555050.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 460,
"cds_start": 1340,
"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": "ENST00000884991.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1340A>G",
"hgvs_p": "p.Glu447Gly",
"transcript": "ENST00000885007.1",
"protein_id": "ENSP00000555066.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 460,
"cds_start": 1340,
"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": "ENST00000885007.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1340A>G",
"hgvs_p": "p.Glu447Gly",
"transcript": "ENST00000962531.1",
"protein_id": "ENSP00000632590.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 460,
"cds_start": 1340,
"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": "ENST00000962531.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1328A>G",
"hgvs_p": "p.Glu443Gly",
"transcript": "ENST00000884994.1",
"protein_id": "ENSP00000555052.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 456,
"cds_start": 1328,
"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": "ENST00000884994.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Glu437Gly",
"transcript": "ENST00000884993.1",
"protein_id": "ENSP00000555051.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 450,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884993.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Glu437Gly",
"transcript": "ENST00000885004.1",
"protein_id": "ENSP00000555062.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 450,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885004.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Glu437Gly",
"transcript": "ENST00000885014.1",
"protein_id": "ENSP00000555073.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 450,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885014.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Glu437Gly",
"transcript": "ENST00000885015.1",
"protein_id": "ENSP00000555074.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 450,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885015.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Glu437Gly",
"transcript": "ENST00000962523.1",
"protein_id": "ENSP00000632582.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 450,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962523.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Glu437Gly",
"transcript": "ENST00000962524.1",
"protein_id": "ENSP00000632583.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 450,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962524.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.Glu436Gly",
"transcript": "ENST00000962527.1",
"protein_id": "ENSP00000632586.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 449,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962527.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1289A>G",
"hgvs_p": "p.Glu430Gly",
"transcript": "ENST00000884998.1",
"protein_id": "ENSP00000555057.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 443,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884998.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1277A>G",
"hgvs_p": "p.Glu426Gly",
"transcript": "ENST00000885005.1",
"protein_id": "ENSP00000555064.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 439,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885005.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Glu418Gly",
"transcript": "ENST00000885011.1",
"protein_id": "ENSP00000555070.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 431,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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],
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"dbsnp": "rs142181517",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6284921765327454,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.664,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2237,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.329,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "NM_153373.4",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Glu437Gly"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}