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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: 9-37422759-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37422759&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37422759,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_012203.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "NM_012203.2",
"protein_id": "NP_036335.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 328,
"cds_start": 9,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318158.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012203.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000318158.11",
"protein_id": "ENSP00000313432.6",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 328,
"cds_start": 9,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012203.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318158.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.64G>C",
"hgvs_p": null,
"transcript": "ENST00000460882.5",
"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": "pseudogene",
"feature": "ENST00000460882.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.94G>C",
"hgvs_p": null,
"transcript": "ENST00000493368.5",
"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": "pseudogene",
"feature": "ENST00000493368.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.310G>C",
"hgvs_p": "p.Gly104Arg",
"transcript": "XM_024447716.2",
"protein_id": "XP_024303484.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 429,
"cds_start": 310,
"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_024447716.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000874646.1",
"protein_id": "ENSP00000544705.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 364,
"cds_start": 9,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874646.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000607784.1",
"protein_id": "ENSP00000475569.1",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 358,
"cds_start": 9,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607784.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000874649.1",
"protein_id": "ENSP00000544708.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 356,
"cds_start": 9,
"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": "ENST00000874649.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000874647.1",
"protein_id": "ENSP00000544706.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 333,
"cds_start": 9,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874647.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000874642.1",
"protein_id": "ENSP00000544701.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 327,
"cds_start": 9,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874642.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000874650.1",
"protein_id": "ENSP00000544709.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 313,
"cds_start": 9,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874650.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000874645.1",
"protein_id": "ENSP00000544704.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 309,
"cds_start": 9,
"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": "ENST00000874645.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000874641.1",
"protein_id": "ENSP00000544700.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 293,
"cds_start": 9,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874641.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000874643.1",
"protein_id": "ENSP00000544702.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 275,
"cds_start": 9,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874643.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000874648.1",
"protein_id": "ENSP00000544707.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 218,
"cds_start": 9,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874648.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000874644.1",
"protein_id": "ENSP00000544703.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 182,
"cds_start": 9,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874644.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000926740.1",
"protein_id": "ENSP00000596799.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 165,
"cds_start": 9,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926740.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000926739.1",
"protein_id": "ENSP00000596798.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 147,
"cds_start": 9,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926739.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000926738.1",
"protein_id": "ENSP00000596797.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 111,
"cds_start": 9,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926738.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000926741.1",
"protein_id": "ENSP00000596800.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 58,
"cds_start": 9,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926741.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "XM_017015320.3",
"protein_id": "XP_016870809.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 338,
"cds_start": 9,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015320.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro",
"transcript": "XM_017015321.3",
"protein_id": "XP_016870810.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 309,
"cds_start": 9,
"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": "XM_017015321.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
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{
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{
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{
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{
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{
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{
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"feature": "XR_007061375.1"
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],
"gene_symbol": "GRHPR",
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"dbsnp": "rs1383422680",
"frequency_reference_population": 0.0000069656994,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.0000069657,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.791,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_012203.2",
"gene_symbol": "GRHPR",
"hgnc_id": 4570,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9G>C",
"hgvs_p": "p.Pro3Pro"
},
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000721621.1",
"gene_symbol": "ENSG00000294170",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.49C>G",
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}
],
"clinvar_disease": "Nephrolithiasis/nephrocalcinosis,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Nephrolithiasis/nephrocalcinosis",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}