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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: 19-58562569-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58562569&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58562569,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003422.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "NM_198055.2",
"protein_id": "NP_932172.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215057.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198055.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000215057.7",
"protein_id": "ENSP00000215057.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198055.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215057.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000599369.5",
"protein_id": "ENSP00000469493.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000599369.5"
},
{
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.*591G>T",
"hgvs_p": null,
"transcript": "ENST00000594234.5",
"protein_id": "ENSP00000469378.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": null,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594234.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MZF1-AS1",
"gene_hgnc_id": 51271,
"hgvs_c": "n.185+3160C>A",
"hgvs_p": null,
"transcript": "ENST00000600534.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000600534.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1753G>T",
"hgvs_p": "p.Ala585Ser",
"transcript": "ENST00000894440.1",
"protein_id": "ENSP00000564499.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 749,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894440.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "NM_003422.3",
"protein_id": "NP_003413.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "NM_003422.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000894435.1",
"protein_id": "ENSP00000564494.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000894435.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000894437.1",
"protein_id": "ENSP00000564496.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000894437.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000894439.1",
"protein_id": "ENSP00000564498.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000894439.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000894442.1",
"protein_id": "ENSP00000564501.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000894442.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000894443.1",
"protein_id": "ENSP00000564502.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000894443.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000894444.1",
"protein_id": "ENSP00000564503.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000894444.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000894445.1",
"protein_id": "ENSP00000564504.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000894445.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000920164.1",
"protein_id": "ENSP00000590223.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000920164.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000920165.1",
"protein_id": "ENSP00000590224.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000920165.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000958727.1",
"protein_id": "ENSP00000628786.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000958727.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000958728.1",
"protein_id": "ENSP00000628787.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000958728.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000958729.1",
"protein_id": "ENSP00000628788.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000958729.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser",
"transcript": "ENST00000958730.1",
"protein_id": "ENSP00000628789.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 734,
"cds_start": 1708,
"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": "ENST00000958730.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1675G>T",
"hgvs_p": "p.Ala559Ser",
"transcript": "ENST00000894441.1",
"protein_id": "ENSP00000564500.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 723,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894441.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MZF1",
"gene_hgnc_id": 13108,
"hgvs_c": "c.1675G>T",
"hgvs_p": "p.Ala559Ser",
"transcript": "ENST00000920163.1",
"protein_id": "ENSP00000590222.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 723,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003422.3",
"gene_symbol": "MZF1",
"hgnc_id": 13108,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1708G>T",
"hgvs_p": "p.Ala570Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000600534.1",
"gene_symbol": "MZF1-AS1",
"hgnc_id": 51271,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.185+3160C>A",
"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
}