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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: 9-127868063-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127868063&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127868063,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001318122.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "NM_000476.3",
"protein_id": "NP_000467.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644144.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000476.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000644144.2",
"protein_id": "ENSP00000494600.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000476.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644144.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257524",
"gene_hgnc_id": null,
"hgvs_c": "n.*563G>T",
"hgvs_p": null,
"transcript": "ENST00000646171.1",
"protein_id": "ENSP00000495484.1",
"transcript_support_level": null,
"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": "ENST00000646171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257524",
"gene_hgnc_id": null,
"hgvs_c": "n.*563G>T",
"hgvs_p": null,
"transcript": "ENST00000646171.1",
"protein_id": "ENSP00000495484.1",
"transcript_support_level": null,
"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": "ENST00000646171.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.578G>T",
"hgvs_p": "p.Gly193Val",
"transcript": "NM_001318122.2",
"protein_id": "NP_001305051.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 210,
"cds_start": 578,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318122.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.578G>T",
"hgvs_p": "p.Gly193Val",
"transcript": "ENST00000223836.10",
"protein_id": "ENSP00000223836.10",
"transcript_support_level": 3,
"aa_start": 193,
"aa_end": null,
"aa_length": 210,
"cds_start": 578,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223836.10"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.554G>T",
"hgvs_p": "p.Gly185Val",
"transcript": "ENST00000954057.1",
"protein_id": "ENSP00000624116.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 202,
"cds_start": 554,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954057.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "NM_001318121.1",
"protein_id": "NP_001305050.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318121.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000373156.5",
"protein_id": "ENSP00000362249.1",
"transcript_support_level": 3,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373156.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000904239.1",
"protein_id": "ENSP00000574298.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904239.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000904242.1",
"protein_id": "ENSP00000574301.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904242.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000904243.1",
"protein_id": "ENSP00000574302.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904243.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000904244.1",
"protein_id": "ENSP00000574303.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904244.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000954052.1",
"protein_id": "ENSP00000624111.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954052.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000954053.1",
"protein_id": "ENSP00000624112.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954053.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000954059.1",
"protein_id": "ENSP00000624118.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954059.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000954060.1",
"protein_id": "ENSP00000624119.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954060.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.530G>T",
"hgvs_p": "p.Gly177Val",
"transcript": "ENST00000954061.1",
"protein_id": "ENSP00000624120.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 194,
"cds_start": 530,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954061.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.527G>T",
"hgvs_p": "p.Gly176Val",
"transcript": "ENST00000904240.1",
"protein_id": "ENSP00000574299.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904240.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.527G>T",
"hgvs_p": "p.Gly176Val",
"transcript": "ENST00000954055.1",
"protein_id": "ENSP00000624114.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 193,
"cds_start": 527,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954055.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.524G>T",
"hgvs_p": "p.Gly175Val",
"transcript": "ENST00000937831.1",
"protein_id": "ENSP00000607890.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 192,
"cds_start": 524,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937831.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.521G>T",
"hgvs_p": "p.Gly174Val",
"transcript": "ENST00000904241.1",
"protein_id": "ENSP00000574300.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 191,
"cds_start": 521,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904241.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318122.2",
"gene_symbol": "AK1",
"hgnc_id": 361,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.578G>T",
"hgvs_p": "p.Gly193Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000646171.1",
"gene_symbol": "ENSG00000257524",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*563G>T",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_174625.1",
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3849G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Hemolytic anemia due to adenylate kinase deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hemolytic anemia due to adenylate kinase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}