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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: 6-97149956-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=97149956&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MMS22L",
"hgnc_id": 21475,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_198468.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1757,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5867693424224854,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "A",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8574,
"cdna_start": 3744,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001350599.2",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683635.1",
"protein_coding": true,
"protein_id": "NP_001337528.1",
"strand": false,
"transcript": "NM_001350599.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "A",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8574,
"cdna_start": 3744,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000683635.1",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001350599.2",
"protein_coding": true,
"protein_id": "ENSP00000508046.1",
"strand": false,
"transcript": "ENST00000683635.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "A",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8683,
"cdna_start": 3853,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_198468.4",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_940870.2",
"strand": false,
"transcript": "NM_198468.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "A",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8643,
"cdna_start": 3813,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000275053.8",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000275053.4",
"strand": false,
"transcript": "ENST00000275053.8",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "A",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4260,
"cdna_start": 3803,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000929352.1",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599411.1",
"strand": false,
"transcript": "ENST00000929352.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "A",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4218,
"cdna_start": 3763,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000929353.1",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599412.1",
"strand": false,
"transcript": "ENST00000929353.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "A",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": 3503,
"cds_end": null,
"cds_length": 3612,
"cds_start": 3427,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000369251.6",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Ala1143Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358254.2",
"strand": false,
"transcript": "ENST00000369251.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "A",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8220,
"cdna_start": 3393,
"cds_end": null,
"cds_length": 3462,
"cds_start": 3277,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000929351.1",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3277G>A",
"hgvs_p": "p.Ala1093Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599410.1",
"strand": false,
"transcript": "ENST00000929351.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 960,
"aa_ref": "A",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8514,
"cdna_start": 3684,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2698,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001350600.2",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.2698G>A",
"hgvs_p": "p.Ala900Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337529.1",
"strand": false,
"transcript": "NM_001350600.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "A",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4826,
"cdna_start": 3744,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011535670.3",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533972.1",
"strand": false,
"transcript": "XM_011535670.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "A",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4877,
"cdna_start": 3795,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011535671.4",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533973.1",
"strand": false,
"transcript": "XM_011535671.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4844,
"cdna_start": 3762,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011535672.4",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533974.1",
"strand": false,
"transcript": "XM_011535672.4",
"transcript_support_level": null
},
{
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"aa_length": 1261,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5389,
"cdna_start": 4307,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011535674.4",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533976.1",
"strand": false,
"transcript": "XM_011535674.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "A",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8625,
"cdna_start": 3795,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047418574.1",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274530.1",
"strand": false,
"transcript": "XM_047418574.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1243,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8592,
"cdna_start": 3762,
"cds_end": null,
"cds_length": 3732,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047418575.1",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274531.1",
"strand": false,
"transcript": "XM_047418575.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1221,
"aa_ref": "A",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4707,
"cdna_start": 3624,
"cds_end": null,
"cds_length": 3666,
"cds_start": 3427,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011535675.3",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Ala1143Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533977.1",
"strand": false,
"transcript": "XM_011535675.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1221,
"aa_ref": "A",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4758,
"cdna_start": 3675,
"cds_end": null,
"cds_length": 3666,
"cds_start": 3427,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047418576.1",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Ala1143Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274532.1",
"strand": false,
"transcript": "XM_047418576.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 3624,
"cds_end": null,
"cds_length": 3612,
"cds_start": 3427,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047418577.1",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Ala1143Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274533.1",
"strand": false,
"transcript": "XM_047418577.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8472,
"cdna_start": 3642,
"cds_end": null,
"cds_length": 3612,
"cds_start": 3427,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047418578.1",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Ala1143Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274534.1",
"strand": false,
"transcript": "XM_047418578.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "A",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8505,
"cdna_start": 3675,
"cds_end": null,
"cds_length": 3612,
"cds_start": 3427,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047418579.1",
"gene_hgnc_id": 21475,
"gene_symbol": "MMS22L",
"hgvs_c": "c.3427G>A",
"hgvs_p": "p.Ala1143Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274535.1",
"strand": false,
"transcript": "XM_047418579.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "A",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4297,
"cdna_start": 3208,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2869,
"consequences": [
"missense_variant"
],
"exon_count": 21,
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}