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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: 1-1223250-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1223250&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1223250,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016176.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "NM_016176.6",
"protein_id": "NP_057260.3",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 355,
"cds_start": 550,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360001.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016176.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000360001.12",
"protein_id": "ENSP00000353094.7",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 355,
"cds_start": 550,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016176.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360001.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000263741.12",
"protein_id": "ENSP00000263741.8",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 341,
"cds_start": 550,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263741.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000900950.1",
"protein_id": "ENSP00000571009.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 379,
"cds_start": 550,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900950.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000900948.1",
"protein_id": "ENSP00000571007.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 355,
"cds_start": 550,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900948.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000900949.1",
"protein_id": "ENSP00000571008.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 355,
"cds_start": 550,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900949.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000900952.1",
"protein_id": "ENSP00000571011.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 355,
"cds_start": 550,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900952.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000900953.1",
"protein_id": "ENSP00000571012.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 355,
"cds_start": 550,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900953.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000900954.1",
"protein_id": "ENSP00000571013.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 355,
"cds_start": 550,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900954.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000921532.1",
"protein_id": "ENSP00000591591.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 355,
"cds_start": 550,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921532.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000921533.1",
"protein_id": "ENSP00000591592.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 355,
"cds_start": 550,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921533.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000969251.1",
"protein_id": "ENSP00000639310.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 352,
"cds_start": 550,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969251.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000921531.1",
"protein_id": "ENSP00000591590.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 348,
"cds_start": 550,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921531.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "NM_016547.3",
"protein_id": "NP_057631.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 341,
"cds_start": 550,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016547.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000900955.1",
"protein_id": "ENSP00000571014.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 341,
"cds_start": 550,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900955.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Glu142Lys",
"transcript": "ENST00000900951.1",
"protein_id": "ENSP00000571010.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 313,
"cds_start": 424,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900951.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys",
"transcript": "ENST00000921530.1",
"protein_id": "ENSP00000591589.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 302,
"cds_start": 550,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921530.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Glu125Lys",
"transcript": "ENST00000403997.2",
"protein_id": "ENSP00000384207.2",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 241,
"cds_start": 373,
"cds_end": null,
"cds_length": 727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403997.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Glu191Lys",
"transcript": "XM_047422111.1",
"protein_id": "XP_047278067.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 362,
"cds_start": 571,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422111.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Glu191Lys",
"transcript": "XM_047422112.1",
"protein_id": "XP_047278068.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 348,
"cds_start": 571,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422112.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Glu191Lys",
"transcript": "XM_011541556.2",
"protein_id": "XP_011539858.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 202,
"cds_start": 571,
"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": "XM_011541556.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "c.468+82G>A",
"hgvs_p": null,
"transcript": "ENST00000969252.1",
"protein_id": "ENSP00000639311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": null,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"hgvs_c": "n.571G>A",
"hgvs_p": null,
"transcript": "ENST00000465727.5",
"protein_id": "ENSP00000435962.1",
"transcript_support_level": 2,
"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": "ENST00000465727.5"
}
],
"gene_symbol": "SDF4",
"gene_hgnc_id": 24188,
"dbsnp": "rs567208985",
"frequency_reference_population": 0.000004111442,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000411144,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6207154393196106,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.1025,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.914,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016176.6",
"gene_symbol": "SDF4",
"hgnc_id": 24188,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Glu184Lys"
}
],
"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
}