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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: 17-77196230-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=77196230&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 77196230,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001039573.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "NM_001143998.2",
"protein_id": "NP_001137470.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000436233.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143998.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000436233.9",
"protein_id": "ENSP00000390392.3",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001143998.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436233.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000443798.8",
"protein_id": "ENSP00000406030.3",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 719,
"cds_start": 738,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443798.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000585618.5",
"protein_id": "ENSP00000466581.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585618.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "NM_001039573.3",
"protein_id": "NP_001034662.3",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 719,
"cds_start": 738,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039573.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "NM_001204408.2",
"protein_id": "NP_001191337.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 719,
"cds_start": 738,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204408.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000392476.6",
"protein_id": "ENSP00000376268.2",
"transcript_support_level": 2,
"aa_start": 246,
"aa_end": null,
"aa_length": 719,
"cds_start": 738,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392476.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "NM_001143999.2",
"protein_id": "NP_001137471.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143999.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "NM_001204410.2",
"protein_id": "NP_001191339.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204410.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "NM_003003.4",
"protein_id": "NP_002994.4",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003003.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000430767.8",
"protein_id": "ENSP00000408169.3",
"transcript_support_level": 2,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430767.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000875146.1",
"protein_id": "ENSP00000545205.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875146.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000875147.1",
"protein_id": "ENSP00000545206.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875147.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000875150.1",
"protein_id": "ENSP00000545209.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875150.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000875151.1",
"protein_id": "ENSP00000545210.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875151.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000875152.1",
"protein_id": "ENSP00000545211.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875152.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000875154.1",
"protein_id": "ENSP00000545213.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875154.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000875155.1",
"protein_id": "ENSP00000545214.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875155.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000875156.1",
"protein_id": "ENSP00000545215.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875156.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.738A>G",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000955367.1",
"protein_id": "ENSP00000625426.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 715,
"cds_start": 738,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955367.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.705A>G",
"hgvs_p": "p.Arg235Arg",
"transcript": "ENST00000955366.1",
"protein_id": "ENSP00000625425.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 704,
"cds_start": 705,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955366.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC14L1",
"gene_hgnc_id": 10698,
"hgvs_c": "c.636A>G",
"hgvs_p": "p.Arg212Arg",
"transcript": "NM_001144001.2",
"protein_id": "NP_001137473.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 681,
"cds_start": 636,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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{
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{
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],
"gene_symbol": "SEC14L1",
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"dbsnp": "rs73998660",
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"hom_count_reference_population": 154,
"allele_count_reference_population": 5174,
"gnomad_exomes_af": 0.0017178,
"gnomad_genomes_af": 0.0174866,
"gnomad_exomes_ac": 2511,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.193,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001039573.3",
"gene_symbol": "SEC14L1",
"hgnc_id": 10698,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.738A>G",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}