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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: 14-69209762-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=69209762&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 69209762,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001193360.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "NM_001193360.2",
"protein_id": "NP_001180289.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000685843.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193360.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000685843.1",
"protein_id": "ENSP00000510642.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001193360.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685843.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000409018.7",
"protein_id": "ENSP00000387331.3",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409018.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.-174G>A",
"hgvs_p": null,
"transcript": "ENST00000413191.1",
"protein_id": "ENSP00000409089.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.-43+18171G>A",
"hgvs_p": null,
"transcript": "ENST00000409675.5",
"protein_id": "ENSP00000386762.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409675.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "n.292G>A",
"hgvs_p": null,
"transcript": "ENST00000492815.5",
"protein_id": "ENSP00000508828.1",
"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": "ENST00000492815.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000904160.1",
"protein_id": "ENSP00000574219.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 631,
"cds_start": 292,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904160.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000904164.1",
"protein_id": "ENSP00000574223.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 631,
"cds_start": 292,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904164.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000922338.1",
"protein_id": "ENSP00000592397.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 631,
"cds_start": 292,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922338.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "NM_001193361.2",
"protein_id": "NP_001180290.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193361.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "NM_001193362.2",
"protein_id": "NP_001180291.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193362.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "NM_001193363.2",
"protein_id": "NP_001180292.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193363.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000312994.9",
"protein_id": "ENSP00000313140.5",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312994.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000904158.1",
"protein_id": "ENSP00000574217.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904158.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000904161.1",
"protein_id": "ENSP00000574220.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904161.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000904162.1",
"protein_id": "ENSP00000574221.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904162.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000904163.1",
"protein_id": "ENSP00000574222.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904163.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000904165.1",
"protein_id": "ENSP00000574224.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904165.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000904166.1",
"protein_id": "ENSP00000574225.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904166.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000922340.1",
"protein_id": "ENSP00000592399.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922340.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000922341.1",
"protein_id": "ENSP00000592400.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922341.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD2",
"gene_hgnc_id": 20217,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000969917.1",
"protein_id": "ENSP00000639976.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 621,
"cds_start": 292,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969917.1"
},
{
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "EXD2",
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"effects": [
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"inheritance_mode": "AR",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}