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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: 22-42871457-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42871457&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42871457,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349969.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "NM_001184970.3",
"protein_id": "NP_001171899.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263246.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184970.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000263246.8",
"protein_id": "ENSP00000263246.3",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001184970.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263246.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000403744.7",
"protein_id": "ENSP00000385372.3",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403744.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1238C>G",
"hgvs_p": "p.Thr413Ser",
"transcript": "ENST00000407585.5",
"protein_id": "ENSP00000385952.1",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 445,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407585.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1502C>G",
"hgvs_p": "p.Thr501Ser",
"transcript": "ENST00000859857.1",
"protein_id": "ENSP00000529916.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 533,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859857.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1379C>G",
"hgvs_p": "p.Thr460Ser",
"transcript": "ENST00000971203.1",
"protein_id": "ENSP00000641262.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 492,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971203.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1367C>G",
"hgvs_p": "p.Thr456Ser",
"transcript": "NM_001349969.2",
"protein_id": "NP_001336898.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 488,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349969.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1367C>G",
"hgvs_p": "p.Thr456Ser",
"transcript": "NM_001349970.2",
"protein_id": "NP_001336899.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 488,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349970.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "NM_007229.3",
"protein_id": "NP_009160.2",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007229.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000402229.5",
"protein_id": "ENSP00000385040.1",
"transcript_support_level": 5,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402229.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859849.1",
"protein_id": "ENSP00000529908.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859849.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859852.1",
"protein_id": "ENSP00000529911.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859852.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859853.1",
"protein_id": "ENSP00000529912.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859853.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859854.1",
"protein_id": "ENSP00000529913.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859854.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859856.1",
"protein_id": "ENSP00000529915.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859856.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859858.1",
"protein_id": "ENSP00000529917.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859858.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859859.1",
"protein_id": "ENSP00000529918.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859859.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859860.1",
"protein_id": "ENSP00000529919.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859860.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859863.1",
"protein_id": "ENSP00000529922.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859863.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859864.1",
"protein_id": "ENSP00000529923.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859864.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859866.1",
"protein_id": "ENSP00000529925.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859866.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACSIN2",
"gene_hgnc_id": 8571,
"hgvs_c": "c.1361C>G",
"hgvs_p": "p.Thr454Ser",
"transcript": "ENST00000859867.1",
"protein_id": "ENSP00000529926.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 486,
"cds_start": 1361,
"cds_end": null,
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"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349969.2",
"gene_symbol": "PACSIN2",
"hgnc_id": 8571,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1367C>G",
"hgvs_p": "p.Thr456Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000828835.1",
"gene_symbol": "ENSG00000307798",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.379G>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_244440.4",
"gene_symbol": "LOC101927393",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.44G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Myoepithelial tumor",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Myoepithelial tumor",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}