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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: 17-78131917-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78131917&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78131917,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152468.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC8",
"gene_hgnc_id": 20474,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "NM_152468.5",
"protein_id": "NP_689681.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 726,
"cds_start": 185,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318430.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152468.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC8",
"gene_hgnc_id": 20474,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000318430.10",
"protein_id": "ENSP00000325561.4",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 726,
"cds_start": 185,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152468.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318430.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-75+424C>T",
"hgvs_p": null,
"transcript": "ENST00000322914.7",
"protein_id": "ENSP00000313408.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322914.7"
},
{
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMC8",
"gene_hgnc_id": 20474,
"hgvs_c": "c.-371-442G>A",
"hgvs_p": null,
"transcript": "ENST00000589691.1",
"protein_id": "ENSP00000467482.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589691.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC8",
"gene_hgnc_id": 20474,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000972441.1",
"protein_id": "ENSP00000642500.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 740,
"cds_start": 185,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972441.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC8",
"gene_hgnc_id": 20474,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000972442.1",
"protein_id": "ENSP00000642501.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 734,
"cds_start": 185,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972442.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC8",
"gene_hgnc_id": 20474,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000893787.1",
"protein_id": "ENSP00000563846.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 730,
"cds_start": 185,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893787.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC8",
"gene_hgnc_id": 20474,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000893786.1",
"protein_id": "ENSP00000563845.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 725,
"cds_start": 185,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893786.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC8",
"gene_hgnc_id": 20474,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000893785.1",
"protein_id": "ENSP00000563844.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 702,
"cds_start": 185,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893785.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC8",
"gene_hgnc_id": 20474,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000893788.1",
"protein_id": "ENSP00000563847.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 673,
"cds_start": 185,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893788.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-991C>T",
"hgvs_p": null,
"transcript": "ENST00000893460.1",
"protein_id": "ENSP00000563519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-991C>T",
"hgvs_p": null,
"transcript": "XM_024450556.2",
"protein_id": "XP_024306324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450556.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-75+424C>T",
"hgvs_p": null,
"transcript": "NM_007267.7",
"protein_id": "NP_009198.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007267.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-75+609C>T",
"hgvs_p": null,
"transcript": "ENST00000893453.1",
"protein_id": "ENSP00000563512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-75+524C>T",
"hgvs_p": null,
"transcript": "ENST00000893454.1",
"protein_id": "ENSP00000563513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-75+476C>T",
"hgvs_p": null,
"transcript": "ENST00000893455.1",
"protein_id": "ENSP00000563514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893455.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-143+476C>T",
"hgvs_p": null,
"transcript": "ENST00000922735.1",
"protein_id": "ENSP00000592794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922735.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-519-269C>T",
"hgvs_p": null,
"transcript": "ENST00000922736.1",
"protein_id": "ENSP00000592795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922736.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-75+424C>T",
"hgvs_p": null,
"transcript": "ENST00000893458.1",
"protein_id": "ENSP00000563517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-75+424C>T",
"hgvs_p": null,
"transcript": "ENST00000893457.1",
"protein_id": "ENSP00000563516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": null,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893457.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-519-269C>T",
"hgvs_p": null,
"transcript": "ENST00000922737.1",
"protein_id": "ENSP00000592796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": null,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMC6",
"gene_hgnc_id": 18021,
"hgvs_c": "c.-75+476C>T",
"hgvs_p": null,
"transcript": "ENST00000972370.1",
"protein_id": "ENSP00000642429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 763,
"cds_start": null,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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{
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"verdict": "Likely_benign",
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{
"score": -3,
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Epidermodysplasia verruciformis|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}