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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: 9-129635439-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129635439&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 129635439,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014064.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "NM_014064.4",
"protein_id": "NP_054783.2",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372483.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014064.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000372483.9",
"protein_id": "ENSP00000361561.4",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014064.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372483.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB6",
"gene_hgnc_id": 17181,
"hgvs_c": "c.*2351T>C",
"hgvs_p": null,
"transcript": "NM_017873.4",
"protein_id": "NP_060343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": null,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000277458.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017873.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB6",
"gene_hgnc_id": 17181,
"hgvs_c": "c.*2351T>C",
"hgvs_p": null,
"transcript": "ENST00000277458.5",
"protein_id": "ENSP00000277458.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": null,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017873.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277458.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB6",
"gene_hgnc_id": 17181,
"hgvs_c": "c.*2351T>C",
"hgvs_p": null,
"transcript": "ENST00000450050.6",
"protein_id": "ENSP00000416172.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": null,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450050.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "NM_001286796.2",
"protein_id": "NP_001273725.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286796.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "NM_001286797.2",
"protein_id": "NP_001273726.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286797.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "NM_001286798.2",
"protein_id": "NP_001273727.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286798.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "NM_001286799.2",
"protein_id": "NP_001273728.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286799.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000372480.1",
"protein_id": "ENSP00000361558.1",
"transcript_support_level": 3,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372480.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000372486.5",
"protein_id": "ENSP00000361564.1",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372486.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000611055.4",
"protein_id": "ENSP00000483489.1",
"transcript_support_level": 3,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611055.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000613644.4",
"protein_id": "ENSP00000478521.1",
"transcript_support_level": 3,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613644.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000900249.1",
"protein_id": "ENSP00000570309.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900249.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000900251.1",
"protein_id": "ENSP00000570310.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900251.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000900252.1",
"protein_id": "ENSP00000570311.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900252.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000900253.1",
"protein_id": "ENSP00000570312.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900253.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000900254.1",
"protein_id": "ENSP00000570313.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900254.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000900255.1",
"protein_id": "ENSP00000570314.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900255.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000900256.1",
"protein_id": "ENSP00000570315.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900256.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000935935.1",
"protein_id": "ENSP00000605994.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935935.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTMT1",
"gene_hgnc_id": 23373,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg",
"transcript": "ENST00000935936.1",
"protein_id": "ENSP00000605995.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 223,
"cds_start": 647,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935936.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014064.4",
"gene_symbol": "NTMT1",
"hgnc_id": 23373,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.647A>G",
"hgvs_p": "p.His216Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017873.4",
"gene_symbol": "ASB6",
"hgnc_id": 17181,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*2351T>C",
"hgvs_p": null
}
],
"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
}