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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: 4-105237193-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=105237193&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 105237193,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000380013.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "NM_001127208.3",
"protein_id": "NP_001120680.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 2002,
"cds_start": 3251,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 3547,
"cdna_end": null,
"cdna_length": 9589,
"mane_select": "ENST00000380013.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "ENST00000380013.9",
"protein_id": "ENSP00000369351.4",
"transcript_support_level": 5,
"aa_start": 1084,
"aa_end": null,
"aa_length": 2002,
"cds_start": 3251,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 3547,
"cdna_end": null,
"cdna_length": 9589,
"mane_select": "NM_001127208.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3314A>C",
"hgvs_p": "p.Gln1105Pro",
"transcript": "ENST00000513237.5",
"protein_id": "ENSP00000425443.1",
"transcript_support_level": 1,
"aa_start": 1105,
"aa_end": null,
"aa_length": 2023,
"cds_start": 3314,
"cds_end": null,
"cds_length": 6072,
"cdna_start": 4111,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "ENST00000540549.5",
"protein_id": "ENSP00000442788.1",
"transcript_support_level": 1,
"aa_start": 1084,
"aa_end": null,
"aa_length": 2002,
"cds_start": 3251,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 4111,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "ENST00000413648.2",
"protein_id": "ENSP00000391448.2",
"transcript_support_level": 1,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3251,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 3391,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "ENST00000305737.6",
"protein_id": "ENSP00000306705.2",
"transcript_support_level": 1,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3251,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 9233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "NM_017628.4",
"protein_id": "NP_060098.3",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3251,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 9233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "XM_005263082.4",
"protein_id": "XP_005263139.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 2002,
"cds_start": 3251,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 3401,
"cdna_end": null,
"cdna_length": 9443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "XM_024454102.2",
"protein_id": "XP_024309870.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 2002,
"cds_start": 3251,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 3660,
"cdna_end": null,
"cdna_length": 9702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "XM_024454103.2",
"protein_id": "XP_024309871.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 2002,
"cds_start": 3251,
"cds_end": null,
"cds_length": 6009,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "XM_006714242.4",
"protein_id": "XP_006714305.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1902,
"cds_start": 3251,
"cds_end": null,
"cds_length": 5709,
"cdna_start": 3547,
"cdna_end": null,
"cdna_length": 9289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "XM_047415839.1",
"protein_id": "XP_047271795.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3251,
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"cds_length": 3693,
"cdna_start": 3547,
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"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "XM_047415840.1",
"protein_id": "XP_047271796.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3251,
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"cds_length": 3687,
"cdna_start": 3547,
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"cdna_length": 4036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "XM_047415841.1",
"protein_id": "XP_047271797.1",
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"cdna_start": 3547,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "XM_017008319.2",
"protein_id": "XP_016863808.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3251,
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"cdna_start": 3547,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "XM_047415842.1",
"protein_id": "XP_047271798.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro",
"transcript": "XM_047415843.1",
"protein_id": "XP_047271799.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3251,
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"cdna_start": 3401,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "n.3251A>C",
"hgvs_p": null,
"transcript": "ENST00000265149.9",
"protein_id": "ENSP00000265149.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"hgvs_c": "n.3547A>C",
"hgvs_p": null,
"transcript": "XR_007057933.1",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.228-59521T>G",
"hgvs_p": null,
"transcript": "ENST00000776423.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.264+21933T>G",
"hgvs_p": null,
"transcript": "ENST00000776424.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.289-59521T>G",
"hgvs_p": null,
"transcript": "ENST00000776425.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TET2-AS1",
"gene_hgnc_id": 41125,
"hgvs_c": "n.319-59521T>G",
"hgvs_p": null,
"transcript": "NR_126420.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TET2",
"gene_hgnc_id": 25941,
"dbsnp": "rs75056899",
"frequency_reference_population": 0.0033013585,
"hom_count_reference_population": 10,
"allele_count_reference_population": 5329,
"gnomad_exomes_af": 0.00334033,
"gnomad_genomes_af": 0.00292739,
"gnomad_exomes_ac": 4883,
"gnomad_genomes_ac": 446,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003145366907119751,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.0702,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.576,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000380013.9",
"gene_symbol": "TET2",
"hgnc_id": 25941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3251A>C",
"hgvs_p": "p.Gln1084Pro"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_126420.1",
"gene_symbol": "TET2-AS1",
"hgnc_id": 41125,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.319-59521T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1 O:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}