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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: 7-1744656-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=1744656&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 1744656,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001128636.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "NM_001128636.4",
"protein_id": "NP_001122108.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424383.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128636.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000424383.5",
"protein_id": "ENSP00000456548.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128636.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424383.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "NM_001394187.1",
"protein_id": "NP_001381116.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394187.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "NM_001394188.1",
"protein_id": "NP_001381117.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394188.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000561626.4",
"protein_id": "ENSP00000457193.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561626.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000691883.1",
"protein_id": "ENSP00000510296.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691883.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853552.1",
"protein_id": "ENSP00000523611.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853552.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853553.1",
"protein_id": "ENSP00000523612.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853553.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853554.1",
"protein_id": "ENSP00000523613.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853554.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853555.1",
"protein_id": "ENSP00000523614.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853555.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853556.1",
"protein_id": "ENSP00000523615.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853556.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853557.1",
"protein_id": "ENSP00000523616.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853557.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853558.1",
"protein_id": "ENSP00000523617.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853558.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853559.1",
"protein_id": "ENSP00000523618.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853559.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853560.1",
"protein_id": "ENSP00000523619.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853560.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853561.1",
"protein_id": "ENSP00000523620.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853561.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853562.1",
"protein_id": "ENSP00000523621.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853562.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853563.1",
"protein_id": "ENSP00000523622.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853563.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853564.1",
"protein_id": "ENSP00000523623.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853564.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853565.1",
"protein_id": "ENSP00000523624.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853565.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000853566.1",
"protein_id": "ENSP00000523625.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853566.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELFN1",
"gene_hgnc_id": 33154,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.His20His",
"transcript": "ENST00000936129.1",
"protein_id": "ENSP00000606188.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 828,
"cds_start": 60,
"cds_end": null,
"cds_length": 2487,
"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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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.57,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP7",
"BS2"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}